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81. Reporting Quality of Social and Psychological Intervention Trials: A Systematic Review of Reporting Guidelines and Trial Publications

Title Tesim:: Reporting Quality of Social and Psychological Intervention Trials: A Systematic Review of Reporting Guidelines and Trial Publications
Creator:: Melendez-Torres, G.J., Grant, S.P., Montgomery, P., and Mayo-Wilson, E.
Date of publication:: 2013
Abstract Tesim:: Background: Previous reviews show that reporting guidelines have improved the quality of trial reports in medicine, yet existing guidelines may not be fully suited for social and psychological intervention trials. Objective/Design: We conducted a two-part study that reviewed (1) reporting guidelines for and (2) the reporting quality of social and psychological intervention trials. Data Sources:(1) To identify reporting guidelines, we systematically searched multiple electronic databases and reporting guideline registries. (2) To identify trials, we hand-searched 40 journals with the 10 highest impact factors in clinical psychology, criminology, education, and social work. Eligibility: (1) Reporting guidelines consisted of articles introducing a checklist of reporting standards relevant to social and psychological intervention trials. (2) Trials reported randomised experiments of complex interventions with psychological, social, or health outcomes. Results: (1) We identified 19 reporting guidelines that yielded 147 reporting standards relevant to social and psychological interventions. Social and behavioural science guidelines included 89 standards not found in CONSORT guidelines. However, CONSORT guidelines used more recommended techniques for development and dissemination compared to other guidelines. (2) Our review of trials (n = 239) revealed that many standards were poorly reported, such as identification as a randomised trial in titles (20% reported the information) and abstracts (55%); information about blinding (15%), sequence generation (23%), and allocation concealment (17%); and details about actual delivery of experimental (43%) and control interventions (34%), participant uptake (25%), and service environment (28%). Only 11 of 40 journals referenced reporting guidelines in "Instructions to Authors." Conclusion: Existing reporting guidelines have important limitations in content, development, and/or dissemination. Important details are routinely missing from trial publications; most leading journals in social and behavioural sciences do not ask authors to follow reporting standards. Findings demonstrate a need to develop a CONSORT extension with updated standards for social and psychological intervention trials.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology
DOI:: https://doi.org/10.17615/k42d-8j36
Edition:: Publisher
Identifier:: https://doi.org/10.1371/journal.pone.0065442
ISSN:: 1932-6203
Journal Issue:: 5
Journal Title:: PLoS ONE
Journal Volume:: 8
Keyword:: criminology, social work, data analysis, Information Dissemination, treatment outcome, clinical effectiveness, factual database, sociology, study design, health care quality, article, Research Design, standard, behavioral science, publication, information processing, Randomized Controlled Trials as Topic, Social Adjustment, Mental Disorders, quality control, scientific literature, Research Report, Guidelines as Topic, psychosocial care, Biomedical Research, clinical psychology, psychiatric treatment, systematic review, information dissemination, practice guideline, Humans, process development, education, medical literature, and human
Language Label:: English
License Label:: Attribution 4.0 International
ORCID:
Other Affiliation:: University of Oxford and University College London
Person:: Melendez-Torres, G.J., Grant, S.P., Montgomery, P., and Mayo-Wilson, E.
Source:: fe367488-1bf5-4d81-a831-fc5699c5bb70

82. Preventive home visits for mortality, morbidity, and institutionalization in older adults: A systematic review and meta-analysis

Title Tesim:: Preventive home visits for mortality, morbidity, and institutionalization in older adults: A systematic review and meta-analysis
Creator:: Underhill, K., Parsons, A., Mayo-Wilson, E., Grant, S., Montgomery, P., and Burton, J.
Date of publication:: 2014
Abstract Tesim:: Background: Home visits for older adults aim to prevent cognitive and functional impairment, thus reducing institutionalization and mortality. Visitors may provide information, investigate untreated problems, encourage medication compliance, and provide referrals to services. Methods and Findings: Data Sources: Ten databases including CENTRAL and Medline searched through December 2012. Study Selection: Randomized controlled trials enrolling community-dwelling persons without dementia aged over 65 years. Interventions included visits at home by a health or social care professional that were not related to hospital discharge. Data Extraction and Synthesis: Two authors independently extracted data. Outcomes were pooled using random effects. Main Outcomes and Measures: Mortality, institutionalization, hospitalization, falls, injuries, physical functioning, cognitive functioning, quality of life, and psychiatric illness. Results: Sixty-four studies with 28642 participants were included. Home visits were not associated with absolute reductions in mortality at longest follow-up, but some programs may have small relative effects (relative risk = 0.93 [0.87 to 0.99]; absolute risk = 0.00 [-0.01 to 0.00]). There was moderate quality evidence of no overall effect on the number of people institutionalized (RR = 1.02 [0.88 to 1.18]) or hospitalized (RR = 0.96 [0.91 to 1.01]). There was high quality evidence for number of people who fell, which is consistent with no effect or a small effect (odds ratio = 0.86 [0.73 to 1.01]), but there was no evidence that these interventions increased independent living. There was low and very low quality evidence of effects for quality of life (standardised mean difference = -0.06 [-0.11 to -0.01]) and physical functioning (SMD = -0.10 [-0.17 to 20.03]) respectively, but these may not be clinically important. Conclusions: Home visiting is not consistently associated with differences in mortality or independent living, and investigations of heterogeneity did not identify any programs that are associated with consistent benefits. Due to poor reporting of intervention components and delivery, we cannot exclude the possibility that some programs may be effective.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology
DOI:: https://doi.org/10.17615/p144-dx94
Edition:: Publisher
Identifier:: https://doi.org/10.1371/journal.pone.0089257
ISSN:: 1932-6203
Journal Issue:: 3
Journal Title:: PLoS ONE
Journal Volume:: 9
Keyword:: review, aged, falling, human, hospitalization, elderly care, physical activity, risk assessment, Mortality, Institutionalization, Humans, mortality, meta analysis, professional practice, systematic review, Morbidity, anxiety disorder, mental disease, outcome assessment, statistics and numerical data, independent living, depression, follow up, morbidity, House Calls, quality of life, injury, Aged, cognition, and institutionalization
Language Label:: English
License Label:: Attribution 4.0 International
ORCID:
Other Affiliation:: Yale Center for Interdisciplinary Research on AIDS, Yale Law School, University College London, and University of Oxford
Person:: Underhill, K., Parsons, A., Mayo-Wilson, E., Grant, S., Montgomery, P., and Burton, J.
Publisher:: Public Library of Science
Source:: 7cdbe938-ec3f-4ea7-b6e6-e88c8cbfbf31

83. Efficacy and safety of pharmacological and psychological interventions for the treatment of psychosis and schizophrenia in children, adolescents and young adults: A systematic review and meta-analysis

Title Tesim:: Efficacy and safety of pharmacological and psychological interventions for the treatment of psychosis and schizophrenia in children, adolescents and young adults: A systematic review and meta-analysis
Creator:: Stafford, M.R., Mayo-Wilson, E., Birchwood, M., Kendall, T., Loucas, C.E., James, A., and Hollis, C.
Date of publication:: 2015
Abstract Tesim:: Background: Studies report contrasting results regarding the efficacy and safety of pharmacological, psychological, and combined interventions in psychosis and schizophrenia in children, adolescents and young adults. Methods: Systematic review and meta-analysis. Embase, Medline, PreMedline, PsycINFO, and CENTRAL were searched to July 2013 without restriction to publication status. Randomised trials comparing any pharmacological, psychological, or combined intervention for psychosis and schizophrenia in children, adolescents and young adults were included. Studies were assessed for bias, and GRADE criteria were used to describe the quality of the results. Results: Twenty-seven trials including 3067 participants were identified. Meta-analyses were performed for 12 comparisons: symptoms, relapse, global state, psychosocial functioning, depression, weight and discontinuation. Low quality evidence demonstrated that antipsychotics have small beneficial effects on psychotic symptoms (SMD = -0.42, 95% CI -0.58 to -0.26), and a medium adverse effect on weight gain (WMD = 1.61, 95% CI 0.61 to 2.60) and discontinuation due to side effects (RR = 2.44, 95% CI, 1.12 to 5.31). There were no trials of psychological treatments in under-18 year olds. There was no evidence of an effect of psychological interventions on psychotic symptoms in an acute episode, or relapse rate, but low quality evidence of a large effect for family plus individual CBT on the number of days to relapse (WMD = 32.25, 95% CI -36.52 to -27.98). Conclusions: For children, adolescents and young adults, the balance of risk and benefit of antipsychotics appears less favourable than in adults. Research is needed to establish the potential for psychological treatments, alone and in combination with antipsychotics, in this population.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology
DOI:: https://doi.org/10.17615/rt9e-w736
Edition:: Publisher
Identifier:: https://doi.org/10.1371/journal.pone.0117166
ISSN:: 1932-6203
Journal Issue:: 2
Journal Title:: PLoS ONE
Journal Volume:: 10
Keyword:: patient counseling, placebo, procedures, aripiprazole, child, neuroleptic agent, dance therapy, Article, chlorpromazine, recurrent disease, Schizophrenia, Child, drug dose comparison, safety, body weight disorder, psychosis, drug efficacy, Humans, drug response, adolescent, systematic review, meta analysis, movement therapy, young adult, psychology, amisulpride, quetiapine, meta analysis (topic), Safety, depression, schizophrenia, psychotherapy, Young Adult, age distribution, art therapy, cognitive therapy, Psychotic Disorders, olanzapine, Adolescent, Psychotherapy, onset age, paliperidone, human, drug safety, intermethod comparison, Antipsychotic Agents, follow up, randomized controlled trial (topic), haloperidol, drug tolerance, and risperidone
Language Label:: English
License Label:: Attribution 4.0 International
ORCID:
Other Affiliation:: Royal College of Psychiatrists, University College London, University of Warwick, Warneford Hospital, and Queen's Medical Centre
Person:: Stafford, M.R., Mayo-Wilson, E., Birchwood, M., Kendall, T., Loucas, C.E., James, A., and Hollis, C.
Publisher:: Public Library of Science
Source:: f8d14d57-cf2b-4716-9fb5-754037fc9c47

84. The cost effectiveness of psychological and pharmacological interventions for social anxiety disorder: A model-based economic analysis

Title Tesim:: The cost effectiveness of psychological and pharmacological interventions for social anxiety disorder: A model-based economic analysis
Creator:: Mavranezouli, I., Dias, S., Mayo-Wilson, E., Kew, K., Clark, D.M., Ades, A.E., and Pilling, S.
Date of publication:: 2015
Abstract Tesim:: Background: Social anxiety disorder is one of the most persistent and common anxiety disorders. Individually delivered psychological therapies are the most effective treatment options for adults with social anxiety disorder, but they are associated with high intervention costs. Therefore, the objective of this study was to assess the relative cost effectiveness of a variety of psychological and pharmacological interventions for adults with social anxiety disorder. Methods: A decision-analytic model was constructed to compare costs and quality adjusted life years (QALYs) of 28 interventions for social anxiety disorder from the perspective of the British National Health Service and personal social services. Efficacy data were derived from a systematic review and network meta-analysis. Other model input parameters were based on published literature and national sources, supplemented by expert opinion. Results: Individual cognitive therapy was the most cost-effective intervention for adults with social anxiety disorder, followed by generic individual cognitive behavioural therapy (CBT), phenelzine and book-based self-help without support. Other drugs, group-based psychological interventions and other individually delivered psychological interventions were less cost-effective. Results were influenced by limited evidence suggesting superiority of psychological interventions over drugs in retaining long-term effects. The analysis did not take into account side effects of drugs. Conclusion: Various forms of individually delivered CBT appear to be the most cost-effective options for the treatment of adults with social anxiety disorder. Consideration of side effects of drugs would only strengthen this conclusion, as it would improve even further the cost effectiveness of individually delivered CBT relative to phenelzine, which was the next most cost-effective option, due to the serious side effects associated with phenelzine. Further research needs to determine more accurately the long-term comparative benefits and harms of psychological and pharmacological interventions for social anxiety disorder and establish their relative cost effectiveness with greater certainty.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology
DOI:: https://doi.org/10.17615/n6b2-m115
Edition:: Publisher
Identifier:: https://doi.org/10.1371/journal.pone.0140704
ISSN:: 1932-6203
Journal Issue:: 10
Journal Title:: PLoS ONE
Journal Volume:: 10
Keyword:: self help, human, systematic review (topic), quality adjusted life year, interpersonal therapy, adult, Humans, Adult, randomized controlled trial (topic), treatment outcome, cost effectiveness analysis, phenelzine, Quality-Adjusted Life Years, Male, measurement accuracy, group therapy, female, cost benefit analysis, economics, moclobemide, Treatment Outcome, paroxetine, social phobia, self help with support, Cost-Benefit Analysis, therapy effect, psychodynamic psychotherapy, disease association, Anxiety Disorders, meta analysis (topic), mirtazapine, individually delivered cognitive behavioral therapy, citalopram, drug cost, escitalopram, Female, psychotherapy, cognitive therapy, venlafaxine, pregabalin, fluvoxamine, male, Article, sertraline, fluoxetine, self help no support, and Psychotherapy
Language Label:: English
License Label:: Attribution 4.0 International
ORCID:
Other Affiliation:: University College London, University of Bristol, and University of Oxford
Person:: Mavranezouli, I., Dias, S., Mayo-Wilson, E., Kew, K., Clark, D.M., Ades, A.E., and Pilling, S.
Publisher:: Public Library of Science
Source:: a3808d49-57c0-4e8c-864b-bcd45bb3bea8

85. Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study

Title Tesim:: Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study
Creator:: Kullo, I.J., Almoguera, B., Petty, L.E., Haessler, J., O'Donnell, C.J., Stram, D.O., Do, R., Dikilitas, O., Peters, U., Assimes, T.L., Damrauer, S.M., Rasmussen-Torvik, L.J., Tsao, P.S., Kosel, M.L., Cho, K., Correa, A., Martin, L.W., Zubair, N., Sleiman, P.M., Wilkens, L.R., Matise, T.C., Cheng, I., Larson, E.B., Ambite, J.L., Kooperberg, C., Hindorff, L.A., Chang, K.-M., VA Million Veteran Program, Graff, M., Feng, Q., Buyske, S., Schaid, D.J., Carlson, C.S., Below, J.E., Hu, Y., Klarin, D., Hilliard, A.T., Wei, W.-Q., Tao, R., Bien, S.A., Ho, Y.-L., Loos, R.J.F., Daviglus, M., Wilson, P.W.F., Jarvik, G.P., Nishimura, K.K., Highland, H.M., Raffield, L.M., Lu, Y., Haiman, C., North, K.E., Verbanck, M., Le Marchand, L., and Mentch, F.D.
Date of publication:: 2020
Abstract Tesim:: Lipid levels are important markers for the development of cardio-metabolic diseases. Although hundreds of associated loci have been identified through genetic association studies, the contribution of genetic factors to variation in lipids is not fully understood, particularly in U.S. minority groups. We performed genome-wide association analyses for four lipid traits in over 45,000 ancestrally diverse participants from the Population Architecture using Genomics and Epidemiology (PAGE) Study, followed by a meta-analysis with several European ancestry studies. We identified nine novel lipid loci, five of which showed evidence of replication in independent studies. Furthermore, we discovered one novel gene in a PrediXcan analysis, minority-specific independent signals at eight previously reported loci, and potential functional variants at two known loci through fine-mapping. Systematic examination of known lipid loci revealed smaller effect estimates in African American and Hispanic ancestry populations than those in Europeans, and better performance of polygenic risk scores based on minority-specific effect estimates. Our findings provide new insight into the genetic architecture of lipid traits and highlight the importance of conducting genetic studies in diverse populations in the era of precision medicine.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology and Department of Genetics
DOI:: https://doi.org/10.17615/p0b9-dv74
Edition:: Publisher
Identifier:: https://doi.org/10.1371/journal.pgen.1008684
ISSN:: 1553-7390
Journal Issue:: 3
Journal Title:: PLoS Genetics
Journal Volume:: 16
Keyword:: low density lipoprotein cholesterol, lipid, lipid blood level, Caucasian, genetic database, genome-wide association study, Hispanic, Female, ancestry group, blood, genetics, genetic association, cholesterol blood level, personalized medicine, Minority Groups, female, Male, human, Genome-Wide Association Study, African American, epidemiology, multifactorial inheritance, meta analysis, procedures, Metagenomics, phenotype, United States, Article, male, Continental Population Groups, Polymorphism, Single Nucleotide, Phenotype, minority group, single nucleotide polymorphism, Databases, Genetic, metagenomics, genetic risk score, genetic predisposition, Lipids, gene locus, Multifactorial Inheritance, effect size, Humans, genotype, Genotype, triacylglycerol, and high density lipoprotein cholesterol
Language Label:: English
License Label:: CC0 1.0 Universal
ORCID:
Other Affiliation:: Mayo Clinic, Children's Hospital of Philadelphia, Vanderbilt University Medical Center, Fred Hutchinson Cancer Research Center, Harvard Medical School, University of Southern California, Icahn School of Medicine at Mount Sinai, VA Palo Alto Health Care System, University of Pennsylvania, Northwestern University, Stanford University, VA Boston Healthcare System, University of Mississippi Medical Center, George Washington University, University of Hawaii Cancer Center, Rutgers University, Cancer Prevention Institute of California, Kaiser Permanente Washington Health Research Institute, NIH National Human Genome Research Institute, , University of Texas School of Public Health, Boston VA Healthcare System, University of Illinois at Chicago, Atlanta VA Medical Center, and University of Washington Medical Center
Person:: Kullo, I.J., Almoguera, B., Petty, L.E., Haessler, J., O'Donnell, C.J., Stram, D.O., Do, R., Dikilitas, O., Peters, U., Assimes, T.L., Damrauer, S.M., Rasmussen-Torvik, L.J., Tsao, P.S., Kosel, M.L., Cho, K., Correa, A., Martin, L.W., Zubair, N., Sleiman, P.M., Wilkens, L.R., Matise, T.C., Cheng, I., Larson, E.B., Ambite, J.L., Kooperberg, C., Hindorff, L.A., Chang, K.-M., VA Million Veteran Program, Graff, M., Feng, Q., Buyske, S., Schaid, D.J., Carlson, C.S., Below, J.E., Hu, Y., Klarin, D., Hilliard, A.T., Wei, W.-Q., Tao, R., Bien, S.A., Ho, Y.-L., Loos, R.J.F., Daviglus, M., Wilson, P.W.F., Jarvik, G.P., Nishimura, K.K., Highland, H.M., Raffield, L.M., Lu, Y., Haiman, C., North, K.E., Verbanck, M., Le Marchand, L., and Mentch, F.D.
Publisher:: Public Library of Science
Source:: 51698c80-39cc-4177-9a7b-f9551112af40

86. Incident Pregnancy and Time to Death or AIDS among HIV-Positive Women Receiving Antiretroviral Therapy

Title Tesim:: Incident Pregnancy and Time to Death or AIDS among HIV-Positive Women Receiving Antiretroviral Therapy
Creator:: Firnhaber, C., Sanne, I., Maskew, M., Majuba, P., Westreich, D., and Evans, D.
Date of publication:: 2013
Abstract Tesim:: Background: Little is known about the impact of pregnancy on response to highly active antiretroviral therapy (HAART) in sub-Saharan Africa. We examined the effect of incident pregnancy after HAART initiation on clinical response to HAART. Methods: We evaluated a prospective clinical cohort of adult women initiating HAART in Johannesburg, South Africa between 1 April 2004 and 31 March 2011, and followed up until an event, transfer, drop-out, or administrative end of follow-up on 30 September 2011. Women over age 45 and women who were pregnant at HAART initiation were excluded from the study. Main exposure was having experienced pregnancy after HAART initiation; main outcome was death and (separately) death or new AIDS event. We calculated adjusted hazard ratios (HRs) and 95% confidence limits (CL) using marginal structural Cox proportional hazards models. Results: The study included 7,534 women, and 20,813 person-years of follow-up; 918 women had at least one recognized pregnancy during follow-up. For death alone, the weighted (adjusted) HR was 0.84 (95% CL 0.44, 1.60). Sensitivity analyses confirmed main results, and results were similar for analysis of death or new AIDS event. Incident pregnancy was associated with a substantially reduced hazard of drop-out (HR = 0.62, 95% CL 0.51, 0.75). Conclusions: Recognized incident pregnancy after HAART initiation was not associated with increases in hazard of clinical events, but was associated with a decreased hazard of drop-out. High rates of pregnancy after initiation of HAART may point to a need to better integrate family planning services into clinical care for HIV-infected women.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology
DOI:: https://doi.org/10.17615/9sbn-nq47
Edition:: Publisher
Identifier:: https://doi.org/10.1371/journal.pone.0073398
ISSN:: 1932-6203
Journal Issue:: 3
Journal Title:: PLoS ONE
Journal Volume:: 8
Keyword:: outcome assessment, health service, cohort analysis, human, Humans, Adult, Pregnancy, Follow-Up Studies, Female, pregnancy, female, hazard ratio, drug efficacy, lopinavir plus ritonavir, death, mortality, didanosine, Acquired Immunodeficiency Syndrome, major clinical study, efavirenz, lamivudine, Human immunodeficiency virus infection, South Africa, adult, tenofovir, acquired immune deficiency syndrome, Pregnancy Complications, Infectious, highly active antiretroviral therapy, disease association, sensitivity analysis, Retrospective Studies, HIV Seropositivity, Antiretroviral Therapy, Highly Active, article, stavudine, prospective study, Incidence, nevirapine, Human immunodeficiency virus, follow up, and zidovudine
Language Label:: English
License Label:: Attribution 4.0 International
Other Affiliation:: University of the Witwatersrand, Right to Care, and Duke University
Person:: Firnhaber, C., Sanne, I., Maskew, M., Majuba, P., Westreich, D., and Evans, D.
Publisher:: Public Library of Science
Rights Statement Label:: In Copyright
Source:: 0fa32057-4c81-4cba-a09e-575b84cdcd2a

87. Association of Forced Vital Capacity with the Developmental Gene NCOR2

Title Tesim:: Association of Forced Vital Capacity with the Developmental Gene NCOR2
Creator:: Hiemstra, P.S., Lahousse, L., Völzke, H., De Jong, K., Aspelund, T., Eiriksdottir, G., Viñuela, A., Gudnason, V., Hall, I.P., Zemunik, T., Koch, B., Heckbert, S.R., Wijmenga, C., Rivadeneira, F., Lopez, L.M., Gu, X., Polasek, O., Huffman, J.E., Manichaikul, A., Melén, E., Flexeder, C., Ripatti, S., White, W.B., Harris, T.B., Navarro, P., Tang, W., Kähönen, M., Rotter, J.I., Kumar, R., Wang, X.-Q., Rudnicka, A.R., Postma, D.S., Sood, A., Omenaas, E., Psaty, B.M., Scotland, G., Li, G., Burkart, K.M., Huikari, V., Hastie, N.D., Pekkanen, J., Smith, L.J., Artigas, M.S., Ramasamy, A., Loehr, L.R., Lee, M.K., Hampel, R., Smith, A.V., Hui, J., Hysi, P.G., Lange, L.A., Couper, D., Heliövaara, M., Launer, L.J., Sin, D., Davies, G., Pottinger, T.D., Kolcic, I., Barr, R.G., Peters, M.J., Bossé, Y., Deary, I.J., Hofman, A., CHARGE consortium., Minster, R.L., Bracke, K.R., Alves, A.C., Wild, S.H., Albrecht, E., Strachan, D.P., Rich, S.S., Gieger, C., Johansson, Å., Rudan, I., Franceschini, N., Hancock, D.B., Järvelin, M.-R., Kritchevsky, S.B., Attia, J.R., Burchard, E.G., Tobin, M.D., Dupuis, J., London, S.J., Beilby, J., Wright, A.F., Grallert, H., Gläser, S., Redline, S., Pouta, A., Zgaga, L., Morrison, A.C., Siroux, V., Lederer, D.J., Brusselle, G.G., Viljanen, A., Karrasch, S., Musk, A.B., Duan, Q., Lind, L., Gao, W., Gaddis, N.C., Oh, Y.-M., Holliday, E.G., Newman, A., Pietiläinen, K.H., Wilson, J.F., Lumley, T., Uitterlinden, A.G., Vitart, V., Wareham, N.J., Minelli, C., Liu, Y., Wojczynski, M., Scott, R.A., Scott, R.J., Demenais, F., Stricker, B.H., Joubert, B.R., MVonk, J., Porteous, D.J., Hind, M., O'Connor, G.T., Amaral, A.F.S., MStarr, J., Sung, J., Wain, L.V., Rantanen, T., Campbell, H., Pin, I., Hayward, C., Gharib, S.A., Kaprio, J., Ingelsson, E., Kim, W.J., Heinrich, J., James, A.L., Zhao, J.H., Fall, T., Wilk, J.B., Williams, O., Burney, P., Sayers, I., Evans, D.M., Schulz, H., Campbell, S., Trochet, H., Gyllensten, U., McArdle, W.L., Teumer, A., Joshi, P.K., Morris, A.P., Loth, D.W., North, K.E., Jarvis, D.L., SpiroMeta consortium, Van Meurs, J.B.J., Wjst, M., Dean, C.H., Jarvis, D., Enroth, S., Hansel, N., Henderson, J., Oldmeadow, C., Fornage, M., Hammond, C.J., Petrini, M.F., Spector, T.D., Bouzigon, E., Thyagarajan, B., Cassano, P.A., Boezen, H.M., Surakka, I., Thompson, J., Garcia, M., MVerhamme, F., Smith, B.H., and Lohman, K.
Date of publication:: 2016
Abstract Tesim:: Background Forced Vital Capacity (FVC) is an important predictor of all-cause mortality in the absence of chronic respiratory conditions. Epidemiological evidence highlights the role of early life factors on adult FVC, pointing to environmental exposures and genes affecting lung development as risk factors for low FVC later in life. Although highly heritable, a small number of genes have been found associated with FVC, and we aimed at identifying further genetic variants by focusing on lung development genes. Methods Per-allele effects of 24,728 SNPs in 403 genes involved in lung development were tested in 7,749 adults from three studies (NFBC1966, ECRHS, EGEA). The most significant SNP for the top 25 genes was followed-up in 46,103 adults (CHARGE and SpiroMeta consortia) and 5,062 children (ALSPAC). Associations were considered replicated if the replication p-value survived Bonferroni correction (p<0.002; 0.05/25), with a nominal p-value considered as suggestive evidence. For SNPs with evidence of replication, effects on the expression levels of nearby genes in lung tissue were tested in 1,111 lung samples (Lung eQTL consortium), with further functional investigation performed using public epigenomic profiling data (ENCODE). Results NCOR2-rs12708369 showed strong replication in children (p = 0.0002), with replication unavailable in adults due to low imputation quality. This intronic variant is in a strong transcriptional enhancer element in lung fibroblasts, but its eQTL effects could not be tested due to low imputation quality in the eQTL dataset. SERPINE2-rs6754561 replicated at nominal level in both adults (p = 0.036) and children (p = 0.045), while WNT16-rs2707469 replicated at nominal level only in adults (p = 0.026). The eQTL analyses showed association of WNT16-rs2707469 with expression levels of the nearby gene CPED1.We found no statistically significant eQTL effects for SERPINE2-rs6754561. Conclusions We have identified a new gene, NCOR2, in the retinoic acid signalling pathway pointing to a role of Vitamin A metabolism in the regulation of FVC. Our findings also support SERPINE2, a COPD gene with weak previous evidence of association with FVC, and suggest WNT16 as a further promising candidate.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology, Department of Genetics, and Department of Biostatistics
DOI:: https://doi.org/10.17615/agfx-qc43
Edition:: Publisher
Identifier:: https://dx.doi.org/10.1371/journal.pone.0147388
ISSN:: 1932-6203
Journal Issue:: 2
Journal Title:: PLoS ONE
Journal Volume:: 11
Keyword:: Female, gene expression profiling, Young Adult, organogenesis, gene replication, silencing mediator of retinoid and thyroid hormone receptor, SERPINE2 gene, NCOR2 gene, Nuclear Receptor Co-Repressor 2, forced expiratory volume, Forced Expiratory Volume, lung, allele, gene expression, Lung, gene, lung fibroblast, Humans, Quantitative Trait Loci, gene identification, WNT16 gene, CPED1 gene, genetic association, gene linkage disequilibrium, forced vital capacity, school child, enhancer region, human tissue, Aged, female, middle aged, adult, Genome-Wide Association Study, child, Genetic Association Studies, aged, genome-wide association study, human, Article, male, Polymorphism, Single Nucleotide, Adult, metabolism, genetics, developmental gene, quantitative trait locus, Organogenesis, Gene Expression Profiling, Genes, Developmental, single nucleotide polymorphism, Middle Aged, intron, young adult, age, human cell, embryology, genetic variability, Male, and genetic association study
Language Label:: English
License Label:: Attribution 4.0 International
ORCID:
Other Affiliation:: Leiden University Medical Center, Ghent University Hospital, University Medicine Greifswald, University of Groningen, University of Iceland, Iceland Heart Association, King's College London, University of Nottingham, University of Split, University Hospital Greifswald, Uppsala University, Erasmus MC, University of Edinburgh, University of Texas Health Science Center at Houston, University of Virginia, Karolinska Institutet, Helmholtz Zentrum München German Research Center for Environmental Health, University of Helsinki, Tougaloo College, National Institutes of Health, Cornell University, University of Tampere, Harbor-UCLA Medical Center, Northwestern University, University of London, University of New Mexico, University of Bergen, University of Washington, University Medical Schools and National Health Service (NHS) in Aberdeen, Columbia University, University of Oulu, University of Eastern Finland, University of Leicester, Imperial College London, , Seoul National University, PathWest Laboratory Medicine Washington, National Institute for Health and Welfare (THL), St-Paul's Hospital, Laval University, University of Pittsburgh, Helmholtz Zentrum München, US National Institutes of Health, Wake Forest School of Medicine, University of Newcastle, University of California, San Francisco, National Heart, Lung, and Blood Institute's Framingham Heart Study, Brigham and Women's Hospital, Trinity College Dublin, Univ. Grenoble Alpes, University of Jyväskylä, National Institute for Health and Welfare, Sir Charles Gairdner Hospital, Boston University, Research Triangle Institute International, University of Ulsan College of Medicine, University of Helsinki,, University of Auckland, Addenbrooke's Hospital, Imperial College, London, Washington University, St. Louis, Univ. Paris Diderot, Royal Brompton and Harefield NHS Foundation Trust, Université Joseph Fourier, Kangwon National University, University of Western Australia, Pfizer Global Research and Development, Florida International University, University of Queensland Diamantina Institute, University of Bristol, University of Oxford, Erasmus Medical Center, Johns Hopkins University, University of Mississippi Medical Center, University of Minnesota, and University of Dundee
Person:: Hiemstra, P.S., Lahousse, L., Völzke, H., De Jong, K., Aspelund, T., Eiriksdottir, G., Viñuela, A., Gudnason, V., Hall, I.P., Zemunik, T., Koch, B., Heckbert, S.R., Wijmenga, C., Rivadeneira, F., Lopez, L.M., Gu, X., Polasek, O., Huffman, J.E., Manichaikul, A., Melén, E., Flexeder, C., Ripatti, S., White, W.B., Harris, T.B., Navarro, P., Tang, W., Kähönen, M., Rotter, J.I., Kumar, R., Wang, X.-Q., Rudnicka, A.R., Postma, D.S., Sood, A., Omenaas, E., Psaty, B.M., Scotland, G., Li, G., Burkart, K.M., Huikari, V., Hastie, N.D., Pekkanen, J., Smith, L.J., Artigas, M.S., Ramasamy, A., Loehr, L.R., Lee, M.K., Hampel, R., Smith, A.V., Hui, J., Hysi, P.G., Lange, L.A., Couper, D., Heliövaara, M., Launer, L.J., Sin, D., Davies, G., Pottinger, T.D., Kolcic, I., Barr, R.G., Peters, M.J., Bossé, Y., Deary, I.J., Hofman, A., CHARGE consortium., Minster, R.L., Bracke, K.R., Alves, A.C., Wild, S.H., Albrecht, E., Strachan, D.P., Rich, S.S., Gieger, C., Johansson, Å., Rudan, I., Franceschini, N., Hancock, D.B., Järvelin, M.-R., Kritchevsky, S.B., Attia, J.R., Burchard, E.G., Tobin, M.D., Dupuis, J., London, S.J., Beilby, J., Wright, A.F., Grallert, H., Gläser, S., Redline, S., Pouta, A., Zgaga, L., Morrison, A.C., Siroux, V., Lederer, D.J., Brusselle, G.G., Viljanen, A., Karrasch, S., Musk, A.B., Duan, Q., Lind, L., Gao, W., Gaddis, N.C., Oh, Y.-M., Holliday, E.G., Newman, A., Pietiläinen, K.H., Wilson, J.F., Lumley, T., Uitterlinden, A.G., Vitart, V., Wareham, N.J., Minelli, C., Liu, Y., Wojczynski, M., Scott, R.A., Scott, R.J., Demenais, F., Stricker, B.H., Joubert, B.R., MVonk, J., Porteous, D.J., Hind, M., O'Connor, G.T., Amaral, A.F.S., MStarr, J., Sung, J., Wain, L.V., Rantanen, T., Campbell, H., Pin, I., Hayward, C., Gharib, S.A., Kaprio, J., Ingelsson, E., Kim, W.J., Heinrich, J., James, A.L., Zhao, J.H., Fall, T., Wilk, J.B., Williams, O., Burney, P., Sayers, I., Evans, D.M., Schulz, H., Campbell, S., Trochet, H., Gyllensten, U., McArdle, W.L., Teumer, A., Joshi, P.K., Morris, A.P., Loth, D.W., North, K.E., Jarvis, D.L., SpiroMeta consortium, Van Meurs, J.B.J., Wjst, M., Dean, C.H., Jarvis, D., Enroth, S., Hansel, N., Henderson, J., Oldmeadow, C., Fornage, M., Hammond, C.J., Petrini, M.F., Spector, T.D., Bouzigon, E., Thyagarajan, B., Cassano, P.A., Boezen, H.M., Surakka, I., Thompson, J., Garcia, M., MVerhamme, F., Smith, B.H., and Lohman, K.
Publisher:: Public Library of Science
Source:: 0992605c-d98a-42b6-9e26-eb75bdfdc49a

88. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries

Title Tesim:: Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Creator:: Rosendaal, F.R., Aschard, H., Lohman, K.K., He, J., Chen, X., Manning, A.K., Khor, C.C., Deary, I.J., Warren, H.R., Louie, T., Yu, C., Franco, O.H., Said, M.A., Ntalla, I., Felix, S.B., Meitinger, T., Weiss, S., Wen, W., Scott, R.A., Franceschini, N., Yanek, L.R., Aung, T., Krieger, J.E., Scott, W.R., Kritchevsky, S.B., Hartwig, F.P., Wojczynski, M.K., Freedman, B.I., Starr, J.M., Deng, X., Froguel, P., Brown, M., Waldenberger, M., Li, Y., Nalls, M.A., Kasturiratne, A., Ding, J., Varga, T.V., Lin, S., Vitart, V., Sotoodehnia, N., Wang, Y., De Mutsert, R., Peters, A., Brown, M.R., Rueedi, R., Gigante, B., Amini, M., Schmidt, C.O., Kilpeläinen, T.O., Langefeld, C.D., Howard, B.V., Sitlani, C.M., Langenberg, C., Boerwinkle, E., Smith, A.V., Milani, L., Eppinga, R.N., Takeuchi, F., Charumathi, S., Lehne, B., Matoba, N., Farrall, M., Evangelou, E., Becker, D.M., Connell, J.M., Winkler, T.W., Gandin, I., Roll, K., Noordam, R., Gao, H., Harris, T.B., Chai, J.F., Tan, N.Y.Q., Heikkinen, S., Tang, H., Kuusisto, J., Rankinen, T., Heng, C.-K., Burke, G.L., Yao, J., Boehnke, M., Kühnel, B., Mägi, R., Liu, J., Forouhi, N.G., Sofer, T., Bentley, A.R., Poulter, N., Gu, D., Boissel, M., Fisher, V., Hagenaars, S.P., Strauch, K., Cai, Q., Hagemeijer, Y., Turner, S.T., Sever, P.S., Ikram, M.A., Horimoto, A.R.V.R., Harris, S.E., John, U., Uitterlinden, A.G., He, M., Brumat, M., Katsuya, T., Wang, L., Wang, Y.X., Hsu, F.-C., O'Connell, J.R., Chambers, J.C., Padmanabhan, S., Kraja, A.T., Ware, E.B., Loh, M., Sung, Y.J., Robino, A., Perls, T., Amin, N., Rotter, J.I., Bartz, T.M., Divers, J., Schreiner, P.J., Koh, W.-P., Gao, C., Teo, Y.Y., Smith, J.A., Schupf, N., Launer, L.J., Borecki, I., Tajuddin, S.M., Mohlke, K.L., Snieder, H., Broeckel, U., Chen, Y.-D.I., Momozawa, Y., Yuan, J.-M., Nolte, I.M., Sim, X., Marten, J., Zhang, W., Li, C., Rose, L.M., Kubo, M., Shi, Y., Sidney, S., Lakka, T.A., Komulainen, P., Metspalu, A., Duan, Q., Sims, M., Canouil, M., Milaneschi, Y., Eaton, C.B., Laguzzi, F., Ehret, G., Chakravarti, A., De Silva, H.J., Luan, J., Esko, T., Raffel, L.J., Schwander, K., Friedlander, Y., Arking, D.E., Richard, M.A., Raitakari, O.T., Hallmans, G., Campbell, A., Stringham, H.M., Franks, P.W., Vollenweider, P., Jackson, A.U., Tayo, B.O., Lewis, C.E., Kähönen, M., Wei, W.B., Faul, J.D., Van Der Most, P.J., Williams, C., Correa, A., Palmer, N.D., Nelson, C.P., Guo, X., Riaz, M., McKenzie, C.A., De Las Fuentes, L., Cheng, C.-Y., Pedersen, N.L., Ghanbari, M., Vojinovic, D., Peyser, P.A., Musani, S.K., Bielak, L.F., Gu, C.C., Taylor, K.D., Alver, M., Dorajoo, R., Hirata, M., Goel, A., Tham, Y.C., Bowden, D.W., Stančáková, A., Zhao, W., Forrester, T., Feitosa, M.F., Zonderman, A.B., Norris, J.M., Chasman, D.I., Zhao, J.H., and Afaq, S.
Date of publication:: 2018
Abstract Tesim:: Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted a large two-stage investigation incorporating joint testing of main genetic effects and single nucleotide variant (SNV)-alcohol consumption interactions. In Stage 1, genome-wide discovery meta-analyses in ≈131K individuals across several ancestry groups yielded 3,514 SNVs (245 loci) with suggestive evidence of association (P < 1.0 x 10−5). In Stage 2, these SNVs were tested for independent external replication in ≈440K individuals across multiple ancestries. We identified and replicated (at Bonferroni correction threshold) five novel BP loci (380 SNVs in 21 genes) and 49 previously reported BP loci (2,159 SNVs in 109 genes) in European ancestry, and in multi-ancestry meta-analyses (P < 5.0 x 10−8). For African ancestry samples, we detected 18 potentially novel BP loci (P < 5.0 x 10−8) in Stage 1 that warrant further replication. Additionally, correlated meta-analysis identified eight novel BP loci (11 genes). Several genes in these loci (e.g., PINX1, GATA4, BLK, FTO and GABBR2) have been previously reported to be associated with alcohol consumption. These findings provide insights into the role of alcohol consumption in the genetic architecture of hypertension.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology and Department of Genetics
DOI:: https://doi.org/10.17615/chag-t845
Edition:: Publisher
Identifier:: https://dx.doi.org/10.1371/journal.pone.0198166
Journal Issue:: 6
Journal Title:: PLoS ONE
Journal Volume:: 13
Language Label:: English
License Label:: CC0 1.0 Universal
ORCID:
Other Affiliation:: Leiden University Medical Center, Harvard School of Public Health, Wake Forest School of Medicine, Tulane University, Karolinska Institutet, Harvard Medical School, National University of Singapore, University of Edinburgh, Queen Mary University of London, University of Washington, Huazhong University of Science and Technology, Erasmus University Medical Center, University of Groningen, University Medicine Greifswald, Helmholtz Zentrum München, University Greifsald, Vanderbilt University School of Medicine, University of Cambridge, , Johns Hopkins University School of Medicine, Singapore Eye Research Institute, University of São Paulo Medical School, Imperial College London, University of Bristol, Washington University School of Medicine, Boston University, European Genomic Institute for Dia, National Institute on Aging, University of Kelaniya, Wake Forest University Health Sciences, Skåne University Hospital, Case Western Reserve University, University of Texas Health Science Center at Houston, University of Lausanne, University of Copenhagen, MedStar Health Research Institute, University of Texas School of Public Health, University of Iceland, University of Tartu, National Center for Global Health and Medicine, RIKEN, University of Oxford, University of Dundee, University of Regensburg, University of Trieste, LABioMed at Harbor-UCLA Medical Center, National Institutes of Health, Singapore National Eye Centre, University of Eastern Finland, Stanford University, Pennington Biomedical Research Center, University of Michigan, Fred Hutchinson Cancer Research Center, Peking Union Medical College, University of Lille, Boston University School of Public Health, Mayo Clinic, Osaka University Graduate School of Medicine, Capital Medical University, University of Maryland School of Medicine, University of Glasgow, IRCCS, Boston University Medical Center, University of Minnesota, National University Health System and National University of Singapore, Columbia University Medical Center, Washington University, Medical College of Wisconsin, University of Pittsburgh, University of Georgia at Athens College of Public Health, Brigham and Women's Hospital, Kaiser Permanente of Northern California, Kuopio Research Institute of Exercise Medicine, University of Mississippi Medical Center, VU University Medical Center, Brown University, Geneva University Hospital, Johns Hopkins University, University of California, Irvine, Hebrew University-Hadassah Medical Center, Turku University Hospital, Umeå University, University Hospital, Lausanne, Loyola University Chicago, University of Alabama at Birmingham, University of Tampere, University of Leicester, University of the West Indies, Mashhad University of Medical Sciences, Genome Institute of Singapore, University of Tokyo, and Colorado School of Public Health
Person:: Rosendaal, F.R., Aschard, H., Lohman, K.K., He, J., Chen, X., Manning, A.K., Khor, C.C., Deary, I.J., Warren, H.R., Louie, T., Yu, C., Franco, O.H., Said, M.A., Ntalla, I., Felix, S.B., Meitinger, T., Weiss, S., Wen, W., Scott, R.A., Franceschini, N., Yanek, L.R., Aung, T., Krieger, J.E., Scott, W.R., Kritchevsky, S.B., Hartwig, F.P., Wojczynski, M.K., Freedman, B.I., Starr, J.M., Deng, X., Froguel, P., Brown, M., Waldenberger, M., Li, Y., Nalls, M.A., Kasturiratne, A., Ding, J., Varga, T.V., Lin, S., Vitart, V., Sotoodehnia, N., Wang, Y., De Mutsert, R., Peters, A., Brown, M.R., Rueedi, R., Gigante, B., Amini, M., Schmidt, C.O., Kilpeläinen, T.O., Langefeld, C.D., Howard, B.V., Sitlani, C.M., Langenberg, C., Boerwinkle, E., Smith, A.V., Milani, L., Eppinga, R.N., Takeuchi, F., Charumathi, S., Lehne, B., Matoba, N., Farrall, M., Evangelou, E., Becker, D.M., Connell, J.M., Winkler, T.W., Gandin, I., Roll, K., Noordam, R., Gao, H., Harris, T.B., Chai, J.F., Tan, N.Y.Q., Heikkinen, S., Tang, H., Kuusisto, J., Rankinen, T., Heng, C.-K., Burke, G.L., Yao, J., Boehnke, M., Kühnel, B., Mägi, R., Liu, J., Forouhi, N.G., Sofer, T., Bentley, A.R., Poulter, N., Gu, D., Boissel, M., Fisher, V., Hagenaars, S.P., Strauch, K., Cai, Q., Hagemeijer, Y., Turner, S.T., Sever, P.S., Ikram, M.A., Horimoto, A.R.V.R., Harris, S.E., John, U., Uitterlinden, A.G., He, M., Brumat, M., Katsuya, T., Wang, L., Wang, Y.X., Hsu, F.-C., O'Connell, J.R., Chambers, J.C., Padmanabhan, S., Kraja, A.T., Ware, E.B., Loh, M., Sung, Y.J., Robino, A., Perls, T., Amin, N., Rotter, J.I., Bartz, T.M., Divers, J., Schreiner, P.J., Koh, W.-P., Gao, C., Teo, Y.Y., Smith, J.A., Schupf, N., Launer, L.J., Borecki, I., Tajuddin, S.M., Mohlke, K.L., Snieder, H., Broeckel, U., Chen, Y.-D.I., Momozawa, Y., Yuan, J.-M., Nolte, I.M., Sim, X., Marten, J., Zhang, W., Li, C., Rose, L.M., Kubo, M., Shi, Y., Sidney, S., Lakka, T.A., Komulainen, P., Metspalu, A., Duan, Q., Sims, M., Canouil, M., Milaneschi, Y., Eaton, C.B., Laguzzi, F., Ehret, G., Chakravarti, A., De Silva, H.J., Luan, J., Esko, T., Raffel, L.J., Schwander, K., Friedlander, Y., Arking, D.E., Richard, M.A., Raitakari, O.T., Hallmans, G., Campbell, A., Stringham, H.M., Franks, P.W., Vollenweider, P., Jackson, A.U., Tayo, B.O., Lewis, C.E., Kähönen, M., Wei, W.B., Faul, J.D., Van Der Most, P.J., Williams, C., Correa, A., Palmer, N.D., Nelson, C.P., Guo, X., Riaz, M., McKenzie, C.A., De Las Fuentes, L., Cheng, C.-Y., Pedersen, N.L., Ghanbari, M., Vojinovic, D., Peyser, P.A., Musani, S.K., Bielak, L.F., Gu, C.C., Taylor, K.D., Alver, M., Dorajoo, R., Hirata, M., Goel, A., Tham, Y.C., Bowden, D.W., Stančáková, A., Zhao, W., Forrester, T., Feitosa, M.F., Zonderman, A.B., Norris, J.M., Chasman, D.I., Zhao, J.H., and Afaq, S.
Source:: 723ea33c-47d0-41fa-b0dd-b39e8c71484a

89. The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis

Title Tesim:: The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis
Creator:: Le Marchand, L., Castañeda, S.F., Carty, C.L., Wang, Y., Kooperberg, C., Chakravarti, A., Jeff, J.M., Schwander, K., Franceschini, N., Buyske, S., Hunt, S.C., Ambite, J.L., Kaplan, R., Crawford, D.C., Ryckman, K.K., Chen, Y.-D.I., Loos, R.J.F., Bottinger, E.P., Talavera, G.A., Matise, T., Gottesman, O., Rotter, J.I., Bielinski, S.J., Hindorff, L., Rao, D.C., Demerath, E., Fernández-Rhodes, L., Malinowski, J.R., Peters, U., Buzkova, P., Guo, X., Yoneyama, S., Daviglus, M., Pankratz, N., Tao, R., Gross, M., Haiman, C., Raffel, L.J., Setiawan, V.W., North, K.E., Yao, J., Heiss, G., Abul-Husn, N.S., Vaidya, D., and Corbett, S.
Date of publication:: 2018
Abstract Tesim:: Current knowledge of the genetic architecture of key reproductive events across the female life course is largely based on association studies of European descent women. The relevance of known loci for age at menarche (AAM) and age at natural menopause (ANM) in diverse populations remains unclear. We investigated 32 AAM and 14 ANM previously-identified loci and sought to identify novel loci in a trans-ethnic array-wide study of 196,483 SNPs on the MetaboChip (Illumina, Inc.). A total of 45,364 women of diverse ancestries (African, Hispanic/Latina, Asian American and American Indian/Alaskan Native) in the Population Architecture using Genomics and Epidemiology (PAGE) Study were included in cross-sectional analyses of AAM and ANM. Within each study we conducted a linear regression of SNP associations with self-reported or medical record-derived AAM or ANM (in years), adjusting for birth year, population stratification, and center/region, as appropriate, and meta-analyzed results across studies using multiple meta-analytic techniques. For both AAM and ANM, we observed more directionally consistent associations with the previously reported risk alleles than expected by chance (p-valuesbinomial0.01). Eight densely genotyped reproductive loci generalized significantly to at least one non-European population. We identified one trans-ethnic array-wide SNP association with AAM and two significant associations with ANM, which have not been described previously. Additionally, we observed evidence of independent secondary signals at three of six AAM trans-ethnic loci. Our findings support the transferability of reproductive trait loci discovered in European women to women of other race/ethnicities and indicate the presence of additional trans-ethnic associations both at both novel and established loci. These findings suggest the benefit of including diverse populations in future studies of the genetic architecture of female growth and development.
Resource type:: Article
Affiliation Label Tesim:: Department of Epidemiology
DOI:: https://doi.org/10.17615/cxsa-nq09
Edition:: Publisher
Identifier:: https://dx.doi.org/10.1371/journal.pone.0200486
Journal Issue:: 7
Journal Title:: PLoS ONE
Journal Volume:: 13
Keyword:: linear regression analysis, meta analysis, European, article, ethnology, Menarche, Genotype, human experiment, female, Menopause, Polymorphism, Single Nucleotide, human, genetics, menopause, biological variation, Alaska Native, phenotype, Hispanic, Asian American, ethnicity, Female, medical record, gene locus, single nucleotide polymorphism, race, allele, stratification, Humans, adult, American Indian, Alleles, cross-sectional study, Biological Variation, Population, menarche, genomics, age, Genetic Loci, ethnic group, Phenotype, genotype, and Age Factors
Language Label:: English
License Label:: CC0 1.0 Universal
Other Affiliation:: University of Hawaii Cancer Center, San Diego State University, Fred Hutchinson Cancer Research Center, , Johns Hopkins University, Illumina, Inc., Washington University in St. Louis, Rutgers University, Weill Cornell Medical College in Qatar, University of Southern California, Albert Einstein College of Medicine, Case Western Reserve University, University of Iowa, Harbor-UCLA Medical Center, Icahn School of Medicine at Mount Sinai, Mayo Clinic, National Institutes of Health, University of Minnesota, Write InSciTe,, LLC, University of Washington, University of Illinois at Chicago, Vanderbilt University Medical Center, University of California—Irvine, and Kansas Health Institute
Person:: Le Marchand, L., Castañeda, S.F., Carty, C.L., Wang, Y., Kooperberg, C., Chakravarti, A., Jeff, J.M., Schwander, K., Franceschini, N., Buyske, S., Hunt, S.C., Ambite, J.L., Kaplan, R., Crawford, D.C., Ryckman, K.K., Chen, Y.-D.I., Loos, R.J.F., Bottinger, E.P., Talavera, G.A., Matise, T., Gottesman, O., Rotter, J.I., Bielinski, S.J., Hindorff, L., Rao, D.C., Demerath, E., Fernández-Rhodes, L., Malinowski, J.R., Peters, U., Buzkova, P., Guo, X., Yoneyama, S., Daviglus, M., Pankratz, N., Tao, R., Gross, M., Haiman, C., Raffel, L.J., Setiawan, V.W., North, K.E., Yao, J., Heiss, G., Abul-Husn, N.S., Vaidya, D., and Corbett, S.
Rights Statement Label:: In Copyright
Source:: 38b1c976-231d-418d-81ab-8e733a32e520

90. Genetic analysis of hsCRP in American Indians: The Strong heart family study

Title Tesim:: Genetic analysis of hsCRP in American Indians: The Strong heart family study
Creator:: Haack, K., Balakrishnan, P., Anderson, M.Z., Voruganti, V.S., Best, L.G., Kocarnik, J.M., Yracheta, J.M., Howard, B.V., Umans, J.G., Franceschini, N., Cole, S.A., North, K.E., Lee, E.T., Pankratz, N., and Navas-Acien, A.
Date of publication:: 2019
Abstract Tesim:: Background Increased serum levels of C-reactive protein (CRP), an important component of the innate immune response, are associated with increased risk of cardiovascular disease (CVD). Multiple single nucleotide polymorphisms (SNP) have been identified which are associated with CRP levels, and Mendelian randomization studies have shown a positive association between SNPs increasing CRP expression and risk of colon cancer (but thus far not CVD). The effects of individual genetic variants often interact with the genetic background of a population and hence we sought to resolve the genetic determinants of serum CRP in a number of American Indian populations. Methods The Strong Heart Family Study (SHFS) has serum CRP measurements from 2428 tribal members, recruited as large families from three regions of the United States. Microsatellite markers and MetaboChip defined SNP genotypes were incorporated into variance components, decomposition-based linkage and association analyses. Results CRP levels exhibited significant heritability (h2 = 0.33 ± 0.05, p<1.3 X 10−20). A locus on chromosome (chr) 6, near marker D6S281 (approximately at 169.6 Mb, GRCh38/hg38) showed suggestive linkage (LOD = 1.9) to CRP levels. No individual SNPs were found associated with CRP levels after Bonferroni adjustment for multiple testing (threshold <7.77 x 10−7), however, we found nominal associations, many of which replicate previous findings at the CRP, HNF1A and 7 other loci. In addition, we report association of 46 SNPs located at 7 novel loci on chromosomes 2, 5, 6(2 loci), 9, 10 and 17, with an average of 15.3 Kb between SNPs and all with p-values less than 7.2 X 10−4. Conclusion In agreement with evidence from other populations, these data show CRP serum levels are under considerable genetic influence; and include loci, such as near CRP and other genes, that replicate results from other ethnic groups. These findings also suggest possible novel loci on chr 6 and other chromosomes that warrant further investigation.
Resource type:: Article
Affiliation Label Tesim:: Department of Nutrition, Department of Epidemiology, and Gillings School of Global Public Health
DOI:: https://doi.org/10.17615/2b2y-1r36
Edition:: Publisher
Identifier:: https://dx.doi.org/10.1371/journal.pone.0223574
Journal Issue:: 10
Journal Title:: PLoS ONE
Journal Volume:: 14
Keyword:: hepatocyte nuclear factor 1alpha, human, population genetics, C-Reactive Protein, adult, genetic linkage, genetics, Genetic Variation, Humans, genetic variability, Biomarkers, chromosome 2, chromosome 5, Genome-Wide Association Study, male, single nucleotide polymorphism, biological marker, chromosome 9, microsatellite marker, American Indian, genetic variation, Indians, North American, Genetics, Population, Female, Alleles, heritability, blood, Polymorphism, Single Nucleotide, gene locus, Article, chromosome 6, Genetic Linkage, protein blood level, Genetic Predisposition to Disease, Male, allele, major clinical study, genotype, genome-wide association study, genetic predisposition, chromosome 10, female, cohort analysis, chromosome 17, Genotype, CRP gene, C reactive protein, HNF1A gene, and genetic association
Language Label:: English
License Label:: Attribution 4.0 International
ORCID:
Other Affiliation:: Texas Biomedical Research Institute, University of Alabama at Birmingham, Ohio State University, , Missouri Breaks Industries Research Inc., Fred Hutchinson Cancer Research Center, Columbia University, MedStar Health Research Institute, University of Oklahoma Health Sciences Center, and University of Minnesota
Person:: Haack, K., Balakrishnan, P., Anderson, M.Z., Voruganti, V.S., Best, L.G., Kocarnik, J.M., Yracheta, J.M., Howard, B.V., Umans, J.G., Franceschini, N., Cole, S.A., North, K.E., Lee, E.T., Pankratz, N., and Navas-Acien, A.
Source:: e9f4339e-e641-4022-9df8-4dd81c50b652