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UNC-authored articles published by the Public Library of Science (PLoS)

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2051. Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases

Title Tesim:
Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases
Creator:
Perou, Charles M., Fulton, Robert S., Mardis, Elaine R., Carey, Lisa A., Wendl, Michael C., Wilson, Richard K., Siegel, Marni B., He, Xiaping, Miller, Christopher A., Kanchi, Krishna L., Zhao, Wei, Demeter, Ryan T., Parker, Joel S., Hoadley, Katherine A., and Ding, Li
Date of publication:
2016
Abstract Tesim:
Metastasis is the main cause of cancer patient deaths and remains a poorly characterized process. It is still unclear when in tumor progression the ability to metastasize arises and whether this ability is inherent to the primary tumor or is acquired well after primary tumor formation. Next-generation sequencing and analytical methods to define clonal heterogeneity provide a means for identifying genetic events and the temporal relationships between these events in the primary and metastatic tumors within an individual.
Resource type:
Article
Affiliation Label Tesim:
Department of Genetics, Department of Medicine, and University of North Carolina at Chapel Hill
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/6818-b214
Identifier:
PMCID: PMC5140046, PMID: 27923045, Publisher DOI: https://doi.org/10.1371/journal.pmed.1002174, and Onescience id: 2c13763da972c1704811cede0324b9e6019d8e53
ISSN:
1549-1277 and 1549-1676
Journal Issue:
12
Journal Title:
PLoS Medicine
Journal Volume:
13
Keyword:
Female, Mutation, Neoplasms, Basal Cell, Retrospective Studies, Aged, Humans, Genomics, Disease Progression, Breast Neoplasms, and Middle Aged
Language Label:
English
ORCID:
, 0000-0002-1992-1358, and 0000-0003-4266-6700
Other Affiliation:
University of North Carolina at Chapel Hill, Department of Pathology and Laboratory Medicine, McDonnell Genome Institute; Washington University in St. Louis, and Department of Mathematics; Washington University in St. Louis
Page Start:
e1002174
Person:
Perou, Charles M., Fulton, Robert S., Mardis, Elaine R., Carey, Lisa A., Wendl, Michael C., Wilson, Richard K., Siegel, Marni B., He, Xiaping, Miller, Christopher A., Kanchi, Krishna L., Zhao, Wei, Demeter, Ryan T., Parker, Joel S., Hoadley, Katherine A., and Ding, Li
Rights Statement Label:
In Copyright
Source:
dr26z338b

2052. Scheduled Intermittent Screening with Rapid Diagnostic Tests and Treatment with Dihydroartemisinin-Piperaquine versus Intermittent Preventive Therapy with Sulfadoxine-Pyrimethamine for Malaria in Pregnancy in Malawi: An Open-Label Randomized Controlled Trial

Title Tesim:
Scheduled Intermittent Screening with Rapid Diagnostic Tests and Treatment with Dihydroartemisinin-Piperaquine versus Intermittent Preventive Therapy with Sulfadoxine-Pyrimethamine for Malaria in Pregnancy in Malawi: An Open-Label Randomized Controlled Trial
Creator:
Smedley, James, Mwapasa, Victor, Faragher, Brian, Madanitsa, Mwayiwawo, van Eijk, Anna M., Meshnick, Steve, Wang, Duolao, Thwai, Kyaw-Lay, Taylor, Steve M., Kang’ombe, Arthur, Levitt, Brandt, Ali, Doreen, Khairallah, Carole, Pace, Cheryl, ter Kuile, Feiko O., and Kalilani, Linda
Date of publication:
2016
Abstract Tesim:
In Africa, most plasmodium infections during pregnancy remain asymptomatic, yet are associated with maternal anemia and low birthweight. WHO recommends intermittent preventive therapy in pregnancy with sulfadoxine-pyrimethamine (IPTp-SP). However, sulfadoxine-pyrimethamine (SP) efficacy is threatened by high-level parasite resistance. We conducted a trial to evaluate the efficacy and safety of scheduled intermittent screening with malaria rapid diagnostic tests (RDTs) and treatment of RDT-positive women with dihydroartemisinin-piperaquine (DP) as an alternative strategy to IPTp-SP.
Resource type:
Article
Affiliation Label Tesim:
Department of Epidemiology
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/4fzt-j921
Identifier:
Onescience id: affcaf6feee58b4dc3530173e085b167bed42877, PMID: 27622558, Publisher DOI: https://doi.org/10.1371/journal.pmed.1002124, and PMCID: PMC5021271
ISSN:
1549-1676 and 1549-1277
Journal Issue:
9
Journal Title:
PLoS Medicine
Journal Volume:
13
Keyword:
Artemisinins, Malawi, Pregnancy Complications, Parasitic, Female, Pregnancy, Young Adult, Antimalarials, Diagnostic Tests, Routine, Malaria, Sulfadoxine, Adolescent, Humans, Drug Combinations, Quinolines, Adult, and Pyrimethamine
Language Label:
English
ORCID:
and 0000-0003-2788-2464
Other Affiliation:
Department of Clinical Sciences; Liverpool School of Tropical Medicine, College of Medicine; University of Malawi, Division of Infectious Diseases; Department of Medicine; Duke University School of Medicine, Duke Global Health Institute; Duke University, Department of Molecular Genetics and Microbiology; Duke University Medical Center, and National Malaria Control Programme; Ministry of Health
Page Start:
e1002124
Person:
Smedley, James, Mwapasa, Victor, Faragher, Brian, Madanitsa, Mwayiwawo, van Eijk, Anna M., Meshnick, Steve, Wang, Duolao, Thwai, Kyaw-Lay, Taylor, Steve M., Kang’ombe, Arthur, Levitt, Brandt, Ali, Doreen, Khairallah, Carole, Pace, Cheryl, ter Kuile, Feiko O., and Kalilani, Linda
Rights Statement Label:
In Copyright
Source:
v979v818v

2053. Promoting Partner Testing and Couples Testing through Secondary Distribution of HIV Self-Tests: A Randomized Clinical Trial

Title Tesim:
Promoting Partner Testing and Couples Testing through Secondary Distribution of HIV Self-Tests: A Randomized Clinical Trial
Creator:
Agot, Kawango, Thirumurthy, Harsha, Maman, Suzanne, Napierala Mavedzenge, Sue, Masters, Samuel H., and Obonyo, Beatrice
Date of publication:
2016
Abstract Tesim:
Achieving higher rates of partner HIV testing and couples testing among pregnant and postpartum women in sub-Saharan Africa is essential for the success of combination HIV prevention, including the prevention of mother-to-child transmission. We aimed to determine whether providing multiple HIV self-tests to pregnant and postpartum women for secondary distribution is more effective at promoting partner testing and couples testing than conventional strategies based on invitations to clinic-based testing.
Resource type:
Article
Affiliation Label Tesim:
Department of Health Policy and Management and Department of Health Behavior
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/bdxq-g890
Identifier:
Onescience id: 2a611789ded0f0bf94094caddada9e3c5f07e3f0, Publisher DOI: https://doi.org/10.1371/journal.pmed.1002166, PMID: 27824882, and PMCID: PMC5100966
ISSN:
1549-1676 and 1549-1277
Journal Issue:
11
Journal Title:
PLoS Medicine
Journal Volume:
13
Keyword:
Sexual Partners, Adult, Kenya, Serologic Tests, Mass Screening, Humans, Female, HIV Infections, Adolescent, Family Characteristics, Male, and Young Adult
Language Label:
English
ORCID:
0000-0002-0475-6951, , 0000-0003-4048-1585, 0000-0001-7581-8219, and 1234-5678-0000-0002
Other Affiliation:
Impact Research and Development Organization, Carolina Population Center, and RTI International
Page Start:
e1002166
Person:
Agot, Kawango, Thirumurthy, Harsha, Maman, Suzanne, Napierala Mavedzenge, Sue, Masters, Samuel H., and Obonyo, Beatrice
Rights Statement Label:
In Copyright
Source:
8k71np338

2054. Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

Title Tesim:
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study
Creator:
Dunstan, Melanie L., Elder, James T., Mistry, Vanisha, Mayes, Maureen D., Dehghan, Abbas, Morris, Andrew P., Prins, Bram. P., Perry, John R. B., Pouget, Jennie G., Spector, Timothy D., Munroe, Patricia B., Jamshidi, Yalda, Shatunov, Aleksey, Snieder, Harold, van Duijn, Cornelia M., Lu, Chen, Abbasi, Ali, Grant, Struan F. A., Franceschini, Nora, Bevan, Steve, Hakonarson, Hakon, Markus, Hugh S., Wong, Anson, Weersma, Rinse K., Bradfield, Jonathan P., Arking, Dan E., Nair, Rajan P., Stuart, Philip E., Vaez, Ahmad, Tsoi, Lam C., Nolte, Ilja, Evangelou, Evangelos, Martin, Javier, Guterriez Achury, Javier, Radstake, Timothy R. D., Al-Chalabi, Ammar, van Heel, David A., Valdes, Ana M., Wood, Nicholas W., Bras, Jose, Knight, Jo, Alizadeh, Behrooz Z., Koeleman, Bobby P. C., Han, Buhm, Polychronakos, Constantin, Wijmenga, Cisca, and Raychaudhuri, Soumya
Date of publication:
2016
Abstract Tesim:
C-reactive protein (CRP) is associated with immune, cardiometabolic, and psychiatric traits and diseases. Yet it is inconclusive whether these associations are causal.
Resource type:
Article
Affiliation Label Tesim:
Department of Epidemiology
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/946f-3p45
Identifier:
Publisher DOI: https://doi.org/10.1371/journal.pmed.1001976, Onescience id: d07411f33a9e6bfbdf17eec61159a7a84901d677, PMCID: PMC4915710, and PMID: 27327646
ISSN:
1549-1277 and 1549-1676
Journal Issue:
6
Journal Title:
PLoS Medicine
Journal Volume:
13
Keyword:
Genome Analysis, Biology and Life Sciences, Osteoarthritis, Vascular Medicine, Mood Disorders, Medicine and Health Sciences, Rheumatology, Sociology, Bipolar Disorder, Blood Pressure, Genome-Wide Association Studies, Social Sciences, Schizophrenia, Arthritis, Mental Health and Psychiatry, Anatomy, Computational Biology, Legs, Genetics of Disease, Human Genetics, Consortia, Limbs (Anatomy), Musculoskeletal System, Genomics, and Genetics
Language Label:
English
ORCID:
0000-0003-3817-2142, , and 0000-0002-9546-6529
Other Affiliation:
Institute of Psychological Medicine and Clinical Neurosciences; School of Medicine; Cardiff University, Department of Dermatology; Veterans Affairs Hospital; University of Michigan, Metabolic Research Laboratories; Wellcome Trust–MRC Institute of Metabolic Science; Addenbrooke’s Hospital; University of Cambridge, Blizard Institute; Barts and The London School of Medicine and Dentistry; Queen Mary University of London, Division of Rheumatology and Clinical Immunogenetics; University of Texas Health Science Center at Houston, Department of Epidemiology; Erasmus University Rotterdam; University Medical Centre Rotterdam; Rotterdam, Wellcome Trust Centre for Human Genetics; University of Oxford, Department of Biostatistics; University of Liverpool, Department of Human Genetics; Wellcome Trust Sanger Institute, Department of Epidemiology; University of Groningen; University Medical Center Groningen, MRC Epidemiology Unit; University of Cambridge School of Clinical Medicine; Institute of Metabolic Science; Addenbrooke’s Hospital, Institute of Medical Sciences; University of Toronto, Department of Psychiatry; University of Toronto, Campbell Family Mental Health Research Institute; Centre for Addiction and Mental Health, Department of Twin Research and Genetic Epidemiology; King’s College London, Clinical Pharmacology; William Harvey Research Institute; Barts and the London School of Medicine; Queen Mary University of London, NIHR Barts Cardiovascular Biomedical Research Unit; William Harvey Research Institute; Queen Mary University of London, Cardiogenetics Lab; Cardiovascular and Cell Sciences Institute; St George’s Hospital Medical School, Department of Basic and Clinical Neuroscience; Institute of Psychiatry; Psychology and Neuroscience; King’s College London, Department of Biostatistics; Boston University School of Public Health, Department of Internal Medicine; University of Groningen; University Medical Center Groningen, Department of Pediatrics; Perelman School of Medicine; University of Pennsylvania, Center for Applied Genomics; Division of Human Genetics; Children’s Hospital of Philadelphia, Neurology Unit; Department of Clinical Neurosciences; University of Cambridge, Faculty of Medicine; University of Ottawa, Department of Gastroenterology and Hepatology; University of Groningen; University Medical Center Groningen, McKusick-Nathans Institute of Genetic Medicine and Department of Medicine; Division of Cardiology; Johns Hopkins University School of Medicine, School of Medicine; Isfahan University of Medical Sciences, Department of Biostatistics; University of Michigan, Department of Epidemiology and Biostatistics; School of Public Health; Imperial College London, Department of Hygiene and Epidemiology; University of Ioannina Medical School, Instituto de Parasitologia y Biomedicina Lopez-Neyra; Consejo Superior de Investigaciones Científicas, Department of Genetics; University of Groningen; University Medical Centre Groningen, Department of Rheumatology & Clinical Immunology and Laboratory of Translational Immunology; University Medical Center Utrecht, Complex Disease Genetics; Cold Spring Harbor Laboratory, Department of Academic Rheumatology; University of Nottingham, Department of Molecular Neuroscience; UCL Institute of Neurology, Department of Molecular Neuroscience; Institute of Neurology, Biostatistics Division; Dalla Lana School of Public Health; University of Toronto, Complex Genetic Section; Department of Medical Genetics; University Medical Center Utrecht, Program in Medical and Population Genetics; Broad Institute of Harvard and MIT, Endocrine Genetics Research Institute; McGill University Health Center, Division of Rheumatology; Brigham and Women’s Hospital; Harvard Medical School, Partners HealthCare Center for Personalized Genetic Medicine, Faculty of Medical and Human Sciences; University of Manchester, and Division of Genetics; Brigham and Women’s Hospital; Harvard Medical School
Page Start:
e1001976
Person:
Dunstan, Melanie L., Elder, James T., Mistry, Vanisha, Mayes, Maureen D., Dehghan, Abbas, Morris, Andrew P., Prins, Bram. P., Perry, John R. B., Pouget, Jennie G., Spector, Timothy D., Munroe, Patricia B., Jamshidi, Yalda, Shatunov, Aleksey, Snieder, Harold, van Duijn, Cornelia M., Lu, Chen, Abbasi, Ali, Grant, Struan F. A., Franceschini, Nora, Bevan, Steve, Hakonarson, Hakon, Markus, Hugh S., Wong, Anson, Weersma, Rinse K., Bradfield, Jonathan P., Arking, Dan E., Nair, Rajan P., Stuart, Philip E., Vaez, Ahmad, Tsoi, Lam C., Nolte, Ilja, Evangelou, Evangelos, Martin, Javier, Guterriez Achury, Javier, Radstake, Timothy R. D., Al-Chalabi, Ammar, van Heel, David A., Valdes, Ana M., Wood, Nicholas W., Bras, Jose, Knight, Jo, Alizadeh, Behrooz Z., Koeleman, Bobby P. C., Han, Buhm, Polychronakos, Constantin, Wijmenga, Cisca, and Raychaudhuri, Soumya
Rights Statement Label:
In Copyright
Source:
1544bv538

2055. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

Title Tesim:
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
Creator:
Brüning, Thomas, Bojesen, Stig E., Hooning, Maartje J., Southey, Melissa C., Koppert, Linetta B., Devilee, Peter, Hamann, Ute, Swerdlow, Anthony J., Guo, Yan, Malone, Kathi E., Fasching, Peter A., Meindl, Alfons, Børresen-Dale, Anne-Lise, Guénel, Pascal, Verhoef, Senno, Zheng, Wei, Shah, Mitul, Luben, Robert, Van Der Luijt, Rob B., Fletcher, Olivia, Gammon, Marilie, Andrulis, Irene L., Phillips, Kelly-Anne, Beeghly-Fadiel, Alicia, Lindblom, Annika, Bogdanova, Natalia V., Whittemore, Alice S., Kristensen, Vessela, Perez, Jose I. A., Torres, Diana, Rudolph, Anja, Jasmine, Farzana, Winqvist, Robert, Jones, Michael E., Lubinski, Jan, Perkins, Barbara, Truong, Thérèse, Burwinkel, Barbara, John, Esther M., Olson, Janet E., Bolla, Manjeet K., Simard, Jacques, Margolin, Sara, Benitez, Javier, Nevanlinna, Heli, Lee, Eunjung, Flesch-Janys, Dieter, Schmidt, Marjanka K., Ahsan, Habibul, Dörk, Thilo, Santella, Regina, Dumont, Martine, Kosma, Veli-Matti, Brand, Judith, Neuhausen, Susan L., Peterlongo, Paolo, Garcia-Closas, Montserrat, Mannermaa, Arto, Anton-Culver, Hoda, Giles, Graham G., Dunning, Allison, Pylkäs, Katri, Couch, Fergus J., Haiman, Christopher A., Hopper, John L., Warren Andersen, Shaneda, Cross, Simon S., Le Marchand, Loic, Beckmann, Matthias W., Li, Jingmei, Jakubowska, Anna, Cox, Angela, Brauch, Hiltrud, Czene, Kamila, Michailidou, Kyriaki, Pharoah, Paul, Figueroa, Jonine, Knight, Julia A., Zhao, Hui, McLean, Catriona, Milne, Roger L., Flyger, Henrik, Chenevix-Trench, Georgia, Aittomäki, Kristiina, Sawyer, Elinor J., Wang, Qin, Brenner, Hermann, Marme, Frederik, Arndt, Volker, Hall, Per, Hunter, David, Kraft, Peter, Kibriya, Muhammad, Fostira, Florentia, Toland, Amanda E., Chang-Claude, Jenny, Johnson, Nichola, Schmutzler, Rita K., Seynaeve, Caroline, Casey, Graham, Neven, Patrick, Meijers-Heijboer, Hanne, Zhao, Shilin, Bonanni, Bernardo, Tomlinson, Ian, Shrubsole, Martha J., Kabisch, Maria, Jenkins, Mark, Easton, Douglas F., Shu, Xiao-Ou, and Ursin, Giske
Date of publication:
2016
Abstract Tesim:
Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors.
Resource type:
Article
Affiliation Label Tesim:
Department of Epidemiology
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/4z1c-c984
Identifier:
PMID: 27551723, Onescience id: 55861552621f643d35f030a2e410a0f15cd95e09, Publisher DOI: https://doi.org/10.1371/journal.pmed.1002105, and PMCID: PMC4995025
ISSN:
1549-1277 and 1549-1676
Journal Issue:
8
Journal Title:
PLoS Medicine
Journal Volume:
13
Keyword:
Cancers and Neoplasms, Genome Analysis, Genetic Epidemiology, Genomics, Biology and Life Sciences, Body Weight, Physiology, Consortia, Cancer Risk Factors, Medicine and Health Sciences, Breast Tumors, Endocrine Physiology, Oncology, Breast Cancer, Epidemiology, Human Genetics, Menstrual Cycle, Genetics, Social Sciences, Endocrinology, Computational Biology, Genome-Wide Association Studies, Body Mass Index, Physiological Parameters, and Sociology
Language Label:
English
ORCID:
, 0000-0002-8023-2009, 0000-0002-5088-6343, 0000-0001-6951-6855, 0000-0002-5138-1099, 0000-0001-8494-732X, 0000-0001-9320-8684, 0000-0001-9784-6958, and 0000-0003-1169-3853
Other Affiliation:
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance; Institute of the Ruhr University Bochum, Department of Clinical Biochemistry; Herlev Hospital; Copenhagen University Hospital, Copenhagen General Population Study; Herlev Hospital; Copenhagen University Hospital, Faculty of Health and Medical Sciences; University of Copenhagen, Department of Surgical Oncology; Erasmus University Medical Center, Department of Pathology; The University of Melbourne, Department of Human Genetics; Leiden University Medical Center, Molecular Genetics of Breast Cancer; German Cancer Research Center (DKFZ), Division of Genetics and Epidemiology; The Institute of Cancer Research, Division of Breast Cancer Research; The Institute of Cancer Research, Department of Cancer Biology; Vanderbilt University, Division of Public Health Sciences; Fred Hutchinson Cancer Research Center, Department of Gynaecology and Obstetrics; University Hospital Erlangen; Friedrich-Alexander University Erlangen-Nuremberg; Comprehensive Cancer Center Erlangen-EMN, David Geffen School of Medicine; Department of Medicine Division of Hematology and Oncology; University of California at Los Angeles, Division of Gynaecology and Obstetrics; Technische Universität München, Department of Genetics; Institute for Cancer Research; Radiumhospitalet; Oslo University Hospital; Oslo University Hospital, Institute of Clinical Medicine; Faculty of Medicine; University of Oslo, Environmental Epidemiology of Cancer; Center for Research in Epidemiology and Population Health; INSERM, University Paris-Sud, Netherlands Cancer Institute; Antoni van Leeuwenhoek hospital, Division of Epidemiology; Department of Medicine; Vanderbilt-Ingram Cancer Center; Vanderbilt University School of Medicine, Centre for Cancer Genetic Epidemiology; Department of Oncology; University of Cambridge, Clinical Gerontology; Department of Public Health and Primary Care; University of Cambridge, Department of Medical Genetics; University Medical Center Utrecht, Breakthrough Breast Cancer Research Centre; The Institute of Cancer Research, Department of Molecular Genetics; University of Toronto, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Peter MacCallum Cancer Center; The University of Melbourne, Department of Medicine; St Vincent’s Hospital; The University of Melbourne, Sir Peter MacCallum Department of Oncology; The University of Melbourne, Department of Molecular Medicine and Surgery; Karolinska Institutet, Department of Radiation Oncology; Hannover Medical School, Department of Health Research and Policy; Stanford University School of Medicine, Department of Clinical Molecular Biology; Oslo University Hospital; University of Oslo, Servicio de Cirugía General y Especialidades; Hospital Monte Naranco, Division of Cancer Epidemiology; German Cancer Research Center (DKFZ), Department of Health Studies; The University of Chicago, Laboratory of Cancer Genetics and Tumor Biology; Department of Clinical Chemistry and Biocenter Oulu; University of Oulu, Laboratory of Cancer Genetics and Tumor Biology; Northern Finland Laboratory Centre NordLab, Department of Genetics and Pathology; Pomeranian Medical University, Division of Molecular Genetic Epidemiology; German Cancer Research Center (DKFZ), Molecular Epidemiology Group; German Cancer Research Center (DKFZ), Department of Epidemiology; Cancer Prevention Institute of California, Department of Health Sciences Research; Mayo Clinic, Centre for Cancer Genetic Epidemiology; Department of Public Health and Primary Care; University of Cambridge, Centre Hospitalier Universitaire de Québec Research Center; Laval University, Department of Oncology – Pathology; Karolinska Institutet, Centro de Investigación en Red de Enfermedades Raras, Human Cancer Genetics Program; Spanish National Cancer Research Centre, Department of Obstetrics and Gynecology; Helsinki University Hospital; University of Helsinki, Department of Preventive Medicine; Keck School of Medicine; University of Southern California, Department of Cancer Epidemiology; Clinical Cancer Registry; University Medical Center Hamburg-Eppendorf, Institute for Medical Biometrics and Epidemiology; University Medical Center Hamburg-Eppendorf, Gynaecology Research Unit; Hannover Medical School, Herbert Irving Comprehensive Cancer Center; Columbia University Medical Center, Department of Environmental Health Sciences; Mailman School of Public Health of Columbia University, Imaging Center; Department of Clinical Pathology; Kuopio University Hospital, Institute of Clinical Medicine; Pathology and Forensic Medicine; University of Eastern Finland, Cancer Center of Eastern Finland; University of Eastern Finland, Department of Medical Epidemiology and Biostatistics; Karolinska Institutet, Beckman Research Institute of City of Hope, IFOM; Fondazione Istituto FIRC (Italian Foundation of Cancer Research) di Oncologia Molecolare, Department of Epidemiology; University of California Irvine, Cancer Epidemiology Centre; Cancer Council Victoria, Centre for Epidemiology and Biostatistics; School of Population and Global health; The University of Melbourne, Academic Unit of Pathology; Department of Neuroscience; University of Sheffield, Department of Laboratory Medicine and Pathology; Mayo Clinic, University of Hawaii Cancer Center; Honolulu; Hawaii, Sheffield Cancer Research; Department of Oncology; University of Sheffield, University of Tübingen, Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, German Cancer Consortium (DKTK); German Cancer Research Center (DKFZ), Division of Cancer Epidemiology and Genetics; National Cancer Institute, Division of Epidemiology; Dalla Lana School of Public Health; University of Toronto, Prosserman Centre for Health Research; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Vesalius Research Center, Laboratory for Translational Genetics; Department of Oncology; University of Leuven, Anatomical Pathology; The Alfred Hospital, Department of Breast Surgery; Herlev Hospital; Copenhagen University Hospital, Department of Genetics; QIMR Berghofer Medical Research Institute, Department of Clinical Genetics; Helsinki University Hospital; University of Helsinki, Research Oncology; Guy’s Hospital; King's College London; London, Division of Clinical Epidemiology and Aging Research; German Cancer Research Center (DKFZ), Division of Preventive Oncology; German Cancer Research Center (DKFZ), National Center for Tumor Diseases; University of Heidelberg, Department of Obstetrics and Gynecology; University of Heidelberg, Program in Genetic Epidemiology and Statistical Genetics; Harvard School of Public Health, Department of Epidemiology; Harvard School of Public Health, Molecular Diagnostics Laboratory; IRRP; National Centre for Scientific Research "Demokritos", Department of Molecular Virology; Immunology and Medical Genetics; Comprehensive Cancer Center; The Ohio State University, Department of Obstetrics and Gynecology; University of Ulm, Center for Integrated Oncology; University Hospital of Cologne, Center of Familial Breast and Ovarian Cancer; University Hospital of Cologne, Center for Molecular Medicine; University Hospital of Cologne, Division of Molecular Gyneco-Oncology; Department of Gynaecology and Obstetrics; University Hospital of Cologne, Department of Oncology; University Hospital Gasthuisberg, Department of Clinical Genetics; VU University Medical Center, Division of Cancer Prevention and Genetics; Istituto Europeo di Oncologia, Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre; University of Oxford, and Department of Nutrition; Institute of Basic Medical Sciences; University of Oslo
Page Start:
e1002105
Person:
Brüning, Thomas, Bojesen, Stig E., Hooning, Maartje J., Southey, Melissa C., Koppert, Linetta B., Devilee, Peter, Hamann, Ute, Swerdlow, Anthony J., Guo, Yan, Malone, Kathi E., Fasching, Peter A., Meindl, Alfons, Børresen-Dale, Anne-Lise, Guénel, Pascal, Verhoef, Senno, Zheng, Wei, Shah, Mitul, Luben, Robert, Van Der Luijt, Rob B., Fletcher, Olivia, Gammon, Marilie, Andrulis, Irene L., Phillips, Kelly-Anne, Beeghly-Fadiel, Alicia, Lindblom, Annika, Bogdanova, Natalia V., Whittemore, Alice S., Kristensen, Vessela, Perez, Jose I. A., Torres, Diana, Rudolph, Anja, Jasmine, Farzana, Winqvist, Robert, Jones, Michael E., Lubinski, Jan, Perkins, Barbara, Truong, Thérèse, Burwinkel, Barbara, John, Esther M., Olson, Janet E., Bolla, Manjeet K., Simard, Jacques, Margolin, Sara, Benitez, Javier, Nevanlinna, Heli, Lee, Eunjung, Flesch-Janys, Dieter, Schmidt, Marjanka K., Ahsan, Habibul, Dörk, Thilo, Santella, Regina, Dumont, Martine, Kosma, Veli-Matti, Brand, Judith, Neuhausen, Susan L., Peterlongo, Paolo, Garcia-Closas, Montserrat, Mannermaa, Arto, Anton-Culver, Hoda, Giles, Graham G., Dunning, Allison, Pylkäs, Katri, Couch, Fergus J., Haiman, Christopher A., Hopper, John L., Warren Andersen, Shaneda, Cross, Simon S., Le Marchand, Loic, Beckmann, Matthias W., Li, Jingmei, Jakubowska, Anna, Cox, Angela, Brauch, Hiltrud, Czene, Kamila, Michailidou, Kyriaki, Pharoah, Paul, Figueroa, Jonine, Knight, Julia A., Zhao, Hui, McLean, Catriona, Milne, Roger L., Flyger, Henrik, Chenevix-Trench, Georgia, Aittomäki, Kristiina, Sawyer, Elinor J., Wang, Qin, Brenner, Hermann, Marme, Frederik, Arndt, Volker, Hall, Per, Hunter, David, Kraft, Peter, Kibriya, Muhammad, Fostira, Florentia, Toland, Amanda E., Chang-Claude, Jenny, Johnson, Nichola, Schmutzler, Rita K., Seynaeve, Caroline, Casey, Graham, Neven, Patrick, Meijers-Heijboer, Hanne, Zhao, Shilin, Bonanni, Bernardo, Tomlinson, Ian, Shrubsole, Martha J., Kabisch, Maria, Jenkins, Mark, Easton, Douglas F., Shu, Xiao-Ou, and Ursin, Giske
Rights Statement Label:
In Copyright
Source:
vq27zt785

2056. First-Year Evaluation of Mexico’s Tax on Nonessential Energy-Dense Foods: An Observational Study

Title Tesim:
First-Year Evaluation of Mexico’s Tax on Nonessential Energy-Dense Foods: An Observational Study
Creator:
Rivera, Juan A., Taillie, Lindsey Smith, Batis, Carolina, and Popkin, Barry M.
Date of publication:
2016
Abstract Tesim:
In an effort to prevent continued increases in obesity and diabetes, in January 2014, the Mexican government implemented an 8% tax on nonessential foods with energy density ≥275 kcal/100 g and a peso-per-liter tax on sugar-sweetened beverages (SSBs). Limited rigorous evaluations of food taxes exist worldwide. The objective of this study was to examine changes in volume of taxed and untaxed packaged food purchases in response to these taxes in the entire sample and stratified by socioeconomic status (SES).
Resource type:
Article
Affiliation Label Tesim:
Carolina Population Center
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/3m84-3k68
Identifier:
Onescience id: 33d5b89d1a615fb16cf9fef5fa32e4e8b1d54a28, PMID: 27379797, Publisher DOI: https://doi.org/10.1371/journal.pmed.1002057, and PMCID: PMC4933356
ISSN:
1549-1277 and 1549-1676
Journal Issue:
7
Journal Title:
PLoS Medicine
Journal Volume:
13
Keyword:
Male, Energy Intake, Child, Preschool, Adult, Obesity, Adolescent, Food, Female, Carbonated Beverages, Feeding Behavior, Infant, Infant, Newborn, Humans, Diabetes Mellitus, Fast Foods, Child, and Mexico
Language Label:
English
ORCID:
and 0000-0002-2823-6651
Other Affiliation:
Center for Nutrition and Health Research; National Institute of Public Health and National Council for Science and Technology CONACYT City
Page Start:
e1002057
Person:
Rivera, Juan A., Taillie, Lindsey Smith, Batis, Carolina, and Popkin, Barry M.
Rights Statement Label:
In Copyright
Source:
9z903488n

2057. Transcriptional regulatory control of mammalian nephron progenitors revealed by multi-factor cistromic analysis and genetic studies

Title Tesim:
Transcriptional regulatory control of mammalian nephron progenitors revealed by multi-factor cistromic analysis and genetic studies
Creator:
Smith, Andrew D., Park, Joo-Seop, Raviram, Ramya, Bahrami-Samani, Emad, Fogelgren, Ben, Peterson, Kevin A., Ren, Bing, Guo, Jinjin, McMahon, Andrew P., Hasso, Sean M., Hong, Trudy M., Lozanoff, Scott, Fang, Alan, O’Brien, Lori L., Guo, Qiuyu, Valouev, Anton, Kim, Albert D., and Lee, Young-Jin
Date of publication:
2018
Abstract Tesim:
Nephron progenitor number determines nephron endowment; a reduced nephron count is linked to the onset of kidney disease. Several transcriptional regulators including Six2, Wt1, Osr1, Sall1, Eya1, Pax2, and Hox11 paralogues are required for specification and/or maintenance of nephron progenitors. However, little is known about the regulatory intersection of these players. Here, we have mapped nephron progenitor-specific transcriptional networks of Six2, Hoxd11, Osr1, and Wt1. We identified 373 multi-factor associated ‘regulatory hotspots’ around genes closely associated with progenitor programs. To examine their functional significance, we deleted ‘hotspot’ enhancer elements for Six2 and Wnt4. Removal of the distal enhancer for Six2 leads to a ~40% reduction in Six2 expression. When combined with a Six2 null allele, progeny display a premature depletion of nephron progenitors. Loss of the Wnt4 enhancer led to a significant reduction of Wnt4 expression in renal vesicles and a mildly hypoplastic kidney, a phenotype also enhanced in combination with a Wnt4 null mutation. To explore the regulatory landscape that supports proper target gene expression, we performed CTCF ChIP-seq to identify insulator-boundary regions. One such putative boundary lies between the Six2 and Six3 loci. Evidence for the functional significance of this boundary was obtained by deep sequencing of the radiation-induced Brachyrrhine (Br) mutant allele. We identified an inversion of the Six2/Six3 locus around the CTCF-bound boundary, removing Six2 from its distal enhancer regulation, but placed next to Six3 enhancer elements which support ectopic Six2 expression in the lens where Six3 is normally expressed. Six3 is now predicted to fall under control of the Six2 distal enhancer. Consistent with this view, we observed ectopic Six3 in nephron progenitors. 4C-seq supports the model for Six2 distal enhancer interactions in wild-type and Br/+ mouse kidneys. Together, these data expand our view of the regulatory genome and regulatory landscape underpinning mammalian nephrogenesis.
Resource type:
Article
Affiliation Label Tesim:
Department of Cell Biology and Physiology
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/40z5-t430
Identifier:
PMCID: PMC5805373, Publisher DOI: https://doi.org/10.1371/journal.pgen.1007181, PMID: 29377931, and Onescience id: a00fba3bf4078242f789457bc33cf9751b703760
ISSN:
1553-7404 and 1553-7390
Journal Issue:
1
Journal Title:
PLoS Genetics
Journal Volume:
14
Keyword:
Sequence motif analysis, Transcription factors, Kidneys, Transcriptional control, Gene expression, Mammalian genomics, Nephrons, and Gene regulation
Language Label:
English
ORCID:
, 0000-0002-4190-4386, 0000-0001-9882-7839, 0000-0001-9089-3153, and 0000-0002-1334-3251
Other Affiliation:
Department of Molecular and Computational Biology; University of Southern California, Division of Pediatric Urology and Division of Developmental Biology; Cincinnati Children's Hospital Medical Center, Ludwig Institute for Cancer Research; Department of Cellular and Molecular Medicine; Institute of Genomic Medicine; Moores Cancer Center; University of California San Diego, Department of Anatomy; Biochemistry and Physiology; University of Hawaii at Manoa, The Jackson Laboratory, Department of Stem Cell Biology and Regenerative Medicine; Broad-CIRM Center; Keck School of Medicine; University of Southern California, Cancer Genetics Incorporated, Department of Preventative Medicine; Division of Bioinformatics; Keck School of Medicine; University of Southern California, and iDream Research Center; Mizmedi Women's Hospital
Page Start:
e1007181
Person:
Smith, Andrew D., Park, Joo-Seop, Raviram, Ramya, Bahrami-Samani, Emad, Fogelgren, Ben, Peterson, Kevin A., Ren, Bing, Guo, Jinjin, McMahon, Andrew P., Hasso, Sean M., Hong, Trudy M., Lozanoff, Scott, Fang, Alan, O’Brien, Lori L., Guo, Qiuyu, Valouev, Anton, Kim, Albert D., and Lee, Young-Jin
Rights Statement Label:
In Copyright
Source:
qz20sz670

2058. Histological subtypes of mouse mammary tumors reveal conserved relationships to human cancers

Title Tesim:
Histological subtypes of mouse mammary tumors reveal conserved relationships to human cancers
Creator:
Hollern, Daniel P., Swiatnicki, Matthew R., and Andrechek, Eran R.
Date of publication:
2018
Abstract Tesim:
Human breast cancer has been characterized by extensive transcriptional heterogeneity, with dominant patterns reflected in the intrinsic subtypes. Mouse models of breast cancer also have heterogeneous transcriptomes and we noted that specific histological subtypes were associated with particular subsets. We hypothesized that unique sets of genes define each tumor histological type across mouse models of breast cancer. Using mouse models that contained both gene expression data and expert pathologist classification of tumor histology on a sample by sample basis, we predicted and validated gene expression signatures for Papillary, EMT, Microacinar and other histological subtypes. These signatures predict known histological events across murine breast cancer models and identify counterparts of mouse mammary tumor types in subtypes of human breast cancer. Importantly, the EMT, Adenomyoepithelial, and Solid signatures were predictive of clinical events in human breast cancer. In addition, a pan-cancer comparison revealed that the histological signatures were active in a variety of human cancers such as lung, oral, and esophageal squamous tumors. Finally, the differentiation status and transcriptional activity implicit within these signatures was identified. These data reveal that within tumor histology groups are unique gene expression profiles of differentiation and pathway activity that stretch well beyond the transgenic initiating events and that have clear applicability to human cancers. As a result, our work provides a predictive resource and insights into possible mechanisms that govern tumor heterogeneity.
Resource type:
Article
Affiliation Label Tesim:
University of North Carolina at Chapel Hill
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/cdy6-hv35
Identifier:
Onescience id: 4003cb949786b911249481a465b611f26a92f2af, PMCID: PMC5773092, Publisher DOI: https://doi.org/10.1371/journal.pgen.1007135, and PMID: 29346386
ISSN:
1553-7404 and 1553-7390
Journal Issue:
1
Journal Title:
PLoS Genetics
Journal Volume:
14
Keyword:
Melanomas, Histology, Animal models of disease, Breast cancer, Microarrays, Breast tumors, Gene expression, and Mouse models
Language Label:
English
ORCID:
and 0000-0002-8680-3423
Other Affiliation:
Department of Physiology; Michigan State University
Page Start:
e1007135
Person:
Hollern, Daniel P., Swiatnicki, Matthew R., and Andrechek, Eran R.
Rights Statement Label:
In Copyright
Source:
kp78gn403

2059. Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations

Title Tesim:
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations
Creator:
Young, J. Hunter, Cappola, Anne, Zonderman, Alan B., Faul, Jessica D., Martin, Lisa W., Polak, Joseph F., McKenzie, Colin A., Rotter, Jerome I., Cechova, Sylvia, Adeyemo, Adebowale, Weir, David R., Franceschini, Nora, Kardia, Sharon L. R., Edwards, Todd L., Hui, Qin, Evans, Michele K., Zhou, Jie, Cooper, Richard S., Dreisbach, Albert W., Chakravarti, Aravinda, Zhao, Wei, Taylor, Ken D., Bottinger, Erwin P., Denny, Joshua C., Kayima, James, Won, Sungho, Musani, Solomon K., Gaulton, Kyle J., Palmas, Walter, Yanek, Lisa R., Ware, Erin B., Tang, Hua, Edwards, Digna R. Velez, Wiggins, Kerri L., Arnett, Donna K., Reiner, Alex P., Rotimi, Charles, Chu, Pei-Lun, Liang, Jingjing, Cai, Jianwen, Psaty, Bruce M., Tayo, Bamidele O., Risch, Neil, Laurie, Cathy C., Redline, Susan, Bray, Michael, Le, Thu H., Rice, Kenneth, Boerwinkle, Eric, Forrester, Terrence, Hunt, Steven C., Loos, Ruth J. F., Zhu, Xiaofeng, Lu, Yingchang, Jensen, Richard A., Jackson, Rebecca D., Wang, Heming, Chen, Guanjie, Rao, , Fornage, Myriam, Mosley, Thomas H., Nalls, Michael A., Penman, Alan D., Smith, Jennifer A., Morrison, Alanna C., Lane, Jacqueline M., Sofer, Tamar, Lee, Juyoung, Kim, Wonji, Schwander, Karen, Kooperberg, Charles, Guo, Xiuqing, Fox, Ervin, Papanicolaou, George J., Liu, Kiang, Becker, Diane M., Levy, Daniel, Tajuddin, Salman M., and Sun, Yan V.
Date of publication:
2017
Abstract Tesim:
Hypertension is a leading cause of global disease, mortality, and disability. While individuals of African descent suffer a disproportionate burden of hypertension and its complications, they have been underrepresented in genetic studies. To identify novel susceptibility loci for blood pressure and hypertension in people of African ancestry, we performed both single and multiple-trait genome-wide association analyses. We analyzed 21 genome-wide association studies comprised of 31,968 individuals of African ancestry, and validated our results with additional 54,395 individuals from multi-ethnic studies. These analyses identified nine loci with eleven independent variants which reached genome-wide significance (P < 1.25×10−8) for either systolic and diastolic blood pressure, hypertension, or for combined traits. Single-trait analyses identified two loci (TARID/TCF21 and LLPH/TMBIM4) and multiple-trait analyses identified one novel locus (FRMD3) for blood pressure. At these three loci, as well as at GRP20/CDH17, associated variants had alleles common only in African-ancestry populations. Functional annotation showed enrichment for genes expressed in immune and kidney cells, as well as in heart and vascular cells/tissues. Experiments driven by these findings and using angiotensin-II induced hypertension in mice showed altered kidney mRNA expression of six genes, suggesting their potential role in hypertension. Our study provides new evidence for genes related to hypertension susceptibility, and the need to study African-ancestry populations in order to identify biologic factors contributing to hypertension.
Resource type:
Article
Affiliation Label Tesim:
Gillings School of Global Public Health and Department of Biostatistics
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/vygp-he02
Identifier:
PMCID: PMC5446189, PMID: 28498854, Onescience id: bab38044cee2c0214805cfc2e2b3e30558898eaa, and Publisher DOI: https://doi.org/10.1371/journal.pgen.1006728
ISSN:
1553-7390 and 1553-7404
Journal Issue:
5
Journal Title:
PLoS Genetics
Journal Volume:
13
Keyword:
Mathematical and Statistical Techniques, Africans, Statistical Methods, Ethnicities, Population Groupings, Genetic Loci, Animal Genomics, Vascular Medicine, Human Genetics, Genomics, Renal System, Computational Biology, Kidneys, Biology and Life Sciences, Meta-Analysis, Mammalian Genomics, Hypertension, Medicine and Health Sciences, Anatomy, People and Places, Genetics, Genome Analysis, Blood Pressure, Genome-Wide Association Studies, and Gene Expression
Language Label:
English
ORCID:
, 0000-0002-0883-9754, 0000-0001-7191-1723, 0000-0001-7631-7707, 0000-0002-3105-3231, 0000-0001-9755-2175, 0000-0002-9658-0198, 0000-0001-7117-1075, 0000-0003-2572-4040, 0000-0001-5779-4495, 0000-0002-6745-4635, 0000-0002-3575-5468, 0000-0001-8520-8860, 0000-0002-1729-2383, 0000-0002-1249-797X, 0000-0003-1036-4329, 0000-0002-7919-8528, and 0000-0002-2838-1824
Other Affiliation:
Department of Medicine; Johns Hopkins University School of Medicine, Division of Endocrinology; Diabetes and Metabolism; Perelman School of Medicine at the University of Pennsylvania, Laboratory of Epidemiology and Population Sciences; National Institute on Aging; National Institutes of Health, Survey Research Center; Institute for Social Research; University of Michigan, The George Washington University School of Medicine and Health Sciences, Tufts Medical Center; Tufts University School of Medicine, Tropical Metabolism Research Unit; Caribbean Institute for Health Research; University of the West Indies, Institute for Translational Genomics and Population Sciences; Los Angeles Biomedical Research Institute and Department of Pediatrics; Harbor-UCLA Medical Center, Department of Medicine; Division of Nephrology; University of Virginia, Center for Research on Genomics and Global Health; National Human Genome Research Institute; National Institutes of Health, Department of Epidemiology; School of Public Health; University of Michigan, Division of Epidemiology; Department of Medicine; Institute of Medicine and Public Health; Vanderbilt Genetics Institute; Vanderbilit University Medical Center, Department of Epidemiology; Rollins School of Public Health; Emory University, Department of Public Health Sciences; Loyola University Chicago Stritch School of Medicine, Department of Preventive Medicine; University of Mississippi Medical Center, McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine, The Charles Bronfman Institute for Personalized Medicine; Icahn School of Medicine at Mount Sinai, Department of Biomedical Informatics; Department of Medicine; Vanderbilt University Medical Center, Division of Adult Cardiology Heart Institute; Makerere University College of Health Sciences, Department of Medicine; Makerere University College of Health Sciences, Interdisciplinary Program of Bioinformatics; Seoul National University, Department of Public Health Science; Seoul National University, Department of Pediatrics; University of California San Diego, Department of Medicine; Columbia University, Department of Genetics; Stanford University School of Medicine, Department of Obstetrics and Gynecology; Institute for Medicine and Public Health; Vanderbilt Genetics Institute; Vanderbilt University Medical Center, Cardiovascular Health Research Unit; Department of Medicine; University of Washington, University of Kentucky; College of Public Health, Division of Public Health Sciences; Fred Hutchinson Cancer Research Center, Department of Internal Medicine; Graduate Institute of Biomedical and Pharmaceutical Science; College of Medicine; Fu Jen Catholic University; New Taipei City, Department of Epidemiology & Biostatistics; School of Medicine; Case Western Reserve University, Kaiser Permanente Washington Health Research Institute, Institute for Human Genetics; University of California, Department of Biostatistics; University of Washington, Department of Medicine; Brigham and Women's Hospital; Harvard Medical School, Human Genetics Center; School of Public Health; University of Texas Health Science Center, Cardiovascular Genetics; University of Utah, The Mindich Child Health and Development Institute; Ichan School of Medicine at Mount Sinai, The Genetics of Obesity and Related Metabolic Traits Program; Ichan School of Medicine at Mount Sinai, Division of Epidemiology; Department of Medicine; Vanderbilt-Ingram Cancer Center; Vanderbilt Epidemiology Center; Vanderbilt University School of Medicine, Department of Internal Medicine; Ohio State University, Division of Biostatistics; School of Medicine; Washington University in St. Louis, Institute of Molecular Medicine and Human Genetics Center; University of Texas Health Science Center at Houston, Data Tecnica International; Glen Echo; MD and Laboratory of Neurogenetics; National Institute on Aging; National Institute of Health, Center for Genomic Medicine; Massachusetts General Hospital, Anesthesia Critical Care and Pain Medicine; Massachusetts General Hospital and Harvard Medical School, Program in Medical and Population Genetics; Broad Institute, Division of Structural and Functional Genomics; Center for Genome Science; Korea National Institute of Health, Medical Genetics Institute; Cedars-Sinai Medical Center, Division of Cardiovascular Sciences; National Heart Lung and Blood Institute; National Institutes of Health, Department of Preventive Medicine; Northwestern University Medical School, Population Sciences Branch; National Heart; Lung; and Blood Institute of the National Institutes of Health, and Framingham Heart Study
Page Start:
e1006728
Person:
Young, J. Hunter, Cappola, Anne, Zonderman, Alan B., Faul, Jessica D., Martin, Lisa W., Polak, Joseph F., McKenzie, Colin A., Rotter, Jerome I., Cechova, Sylvia, Adeyemo, Adebowale, Weir, David R., Franceschini, Nora, Kardia, Sharon L. R., Edwards, Todd L., Hui, Qin, Evans, Michele K., Zhou, Jie, Cooper, Richard S., Dreisbach, Albert W., Chakravarti, Aravinda, Zhao, Wei, Taylor, Ken D., Bottinger, Erwin P., Denny, Joshua C., Kayima, James, Won, Sungho, Musani, Solomon K., Gaulton, Kyle J., Palmas, Walter, Yanek, Lisa R., Ware, Erin B., Tang, Hua, Edwards, Digna R. Velez, Wiggins, Kerri L., Arnett, Donna K., Reiner, Alex P., Rotimi, Charles, Chu, Pei-Lun, Liang, Jingjing, Cai, Jianwen, Psaty, Bruce M., Tayo, Bamidele O., Risch, Neil, Laurie, Cathy C., Redline, Susan, Bray, Michael, Le, Thu H., Rice, Kenneth, Boerwinkle, Eric, Forrester, Terrence, Hunt, Steven C., Loos, Ruth J. F., Zhu, Xiaofeng, Lu, Yingchang, Jensen, Richard A., Jackson, Rebecca D., Wang, Heming, Chen, Guanjie, Rao, , Fornage, Myriam, Mosley, Thomas H., Nalls, Michael A., Penman, Alan D., Smith, Jennifer A., Morrison, Alanna C., Lane, Jacqueline M., Sofer, Tamar, Lee, Juyoung, Kim, Wonji, Schwander, Karen, Kooperberg, Charles, Guo, Xiuqing, Fox, Ervin, Papanicolaou, George J., Liu, Kiang, Becker, Diane M., Levy, Daniel, Tajuddin, Salman M., and Sun, Yan V.
Rights Statement Label:
In Copyright
Source:
gt54kt15q

2060. Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure

Title Tesim:
Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure
Creator:
Kardia, Sharon L. R., Wang, Heming, Edwards, Todd L., He, Karen Y., Haessler, Jeffrey, Zhu, Xiaofeng, Cade, Brian E., Nandakumar, Priyanka, Redline, Susan, Smith, Jennifer A., Chakravarti, Aravinda, Giri, Ayush, Le, Thu H., Kooperberg, Charles, Lin, Xihong, Ware, Erin B., Liang, Jingjing, and Franceschini, Nora
Date of publication:
2017
Abstract Tesim:
Many large genome-wide association studies (GWAS) have identified common blood pressure (BP) variants. However, most of the identified BP variants do not overlap with the linkage evidence observed from family studies. We thus hypothesize that multiple rare variants contribute to the observed linkage evidence. We performed linkage analysis using 517 individuals in 130 European families from the Cleveland Family Study (CFS) who have been genotyped on the Illumina OmniExpress Exome array. The largest linkage peak was observed on chromosome 16p13 (MLOD = 2.81) for systolic blood pressure (SBP). Follow-up conditional linkage and association analyses in the linkage region identified multiple rare, coding variants in RBFOX1 associated with reduced SBP. In a 17-member CFS family, carriers of the missense variant rs149974858 are normotensive despite being obese (average BMI = 60 kg/m2). Gene-based association test of rare variants using SKAT-O showed significant association with SBP (p-value = 0.00403) and DBP (p-value = 0.0258) in the CFS participants and the association was replicated in large independent replication studies (N = 57,234, p-value = 0.013 for SBP, 0.0023 for PP). RBFOX1 is expressed in brain tissues, the atrial appendage and left ventricle in the heart, and in skeletal muscle tissues, organs/tissues which are potentially related to blood pressure. Our study showed that associations of rare variants could be efficiently detected using family information.
Resource type:
Article
Affiliation Label Tesim:
Department of Epidemiology
Deposit Record:
http://windsor.libint.unc.edu:8181/fcrepo/rest/prod/e2/82/bb/5c/e282bb5c-ecfc-4dd2-8603-2a46b5cc8e4b
Type:
http://purl.org/dc/dcmitype/Text
DOI:
https://doi.org/10.17615/gak2-c922
Identifier:
Onescience id: dfaba3e2019fb0a5f117cf8c315122610f9feaf7, PMID: 28346479, PMCID: PMC5386302, and Publisher DOI: https://doi.org/10.1371/journal.pgen.1006678
ISSN:
1553-7404 and 1553-7390
Journal Issue:
3
Journal Title:
PLoS Genetics
Journal Volume:
13
Keyword:
Genome-Wide Association Studies, Human Genetics, Chromosome Pairs, Medicine and Health Sciences, Chromosomes, Body Mass Index, Research Article, Cell Biology, Biology and Life Sciences, Chromosome Biology, Chromosome 16, Computational Biology, Blood Pressure, Variant Genotypes, Body Weight, Physiological Parameters, Genetics, Genome Analysis, Genomics, Genetic Mapping, Heredity, Physiology, Linkage Analysis, Vascular Medicine, and Hypertension
Language Label:
English
ORCID:
, 0000-0002-8686-7697, 0000-0002-2332-6746, 0000-0002-3575-5468, and 0000-0002-7786-4670
Other Affiliation:
Department of Epidemiology; School of Public Health; University of Michigan, Department of Epidemiology and Biostatistics; Case Western Reserve University, Division of Epidemiology; Department of Medicine; Institute for Medicine and Public Health; Vanderbilt Genetics Institute; Vanderbilt University, Division of Public Health Sciences; Fred Hutchinson Cancer Research Center, Division of Sleep Medicine; Harvard Medical School, Division of Sleep and Circadian Disorders; Brigham and Women’s Hospital, McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine, Division of Pulmonary; Critical Care; and Sleep Medicine; Beth Israel Deaconess Medical Center, Department of Medicine; Division of Nephrology; University of Virginia, Department of Biostatistics; Harvard T.H. Chan School of Public Health, and Biosocial Methods Collaborative; Institute for Social Research; University of Michigan
Page Start:
e1006678
Person:
Kardia, Sharon L. R., Wang, Heming, Edwards, Todd L., He, Karen Y., Haessler, Jeffrey, Zhu, Xiaofeng, Cade, Brian E., Nandakumar, Priyanka, Redline, Susan, Smith, Jennifer A., Chakravarti, Aravinda, Giri, Ayush, Le, Thu H., Kooperberg, Charles, Lin, Xihong, Ware, Erin B., Liang, Jingjing, and Franceschini, Nora
Rights Statement Label:
In Copyright
Source:
4x51hq309