Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies
We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major ra...
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| Published in | American journal of human genetics Vol. 76; no. 2; pp. 268 - 275 |
|---|---|
| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.02.2005
University of Chicago Press Cell Press The American Society of Human Genetics |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1086/427888 |
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| Abstract | We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. Of 3,636 subjects of varying race/ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity—as opposed to current residence—is the major determinant of genetic structure in the U.S. population. Implications of this genetic structure for case-control association studies are discussed. |
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| AbstractList | We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. Of 3,636 subjects of varying race/ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity—as opposed to current residence—is the major determinant of genetic structure in the U.S. population. Implications of this genetic structure for case-control association studies are discussed. We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. Of 3,636 subjects of varying race/ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity--as opposed to current residence--is the major determinant of genetic structure in the U.S. population. Implications of this genetic structure for case-control association studies are discussed.We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. Of 3,636 subjects of varying race/ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity--as opposed to current residence--is the major determinant of genetic structure in the U.S. population. Implications of this genetic structure for case-control association studies are discussed. We have analyzed genetic data for 326 microsatellite markers that were typed uniformly in a large multiethnic population-based sample of individuals as part of a study of the genetics of hypertension (Family Blood Pressure Program). Subjects identified themselves as belonging to one of four major racial/ethnic groups (white, African American, East Asian, and Hispanic) and were recruited from 15 different geographic locales within the United States and Taiwan. Genetic cluster analysis of the microsatellite markers produced four major clusters, which showed near-perfect correspondence with the four self-reported race/ethnicity categories. Of 3,636 subjects of varying race/ ethnicity, only 5 (0.14%) showed genetic cluster membership different from their self-identified race/ethnicity. On the other hand, we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ ethnicity-as opposed to current residence-is the major determinant of genetic structure in the U.S. population. Implications of this genetic structure for case-control association studies are discussed. [PUBLICATION ABSTRACT] |
| Author | Quertermous, Tom Pankow, James S. Boerwinkle, Eric Kardia, Sharon L.R. Zhu, Xiaofeng Schork, Nicholas J. Province, Michael A. Tang, Hua Risch, Neil J. Brown, Andrew Rodriguez, Beatriz Hunt, Steven C. |
| AuthorAffiliation | 1 Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle; 2 Division of Cardiovascular Medicine and 3 Department of Genetics, Stanford University School of Medicine, Stanford, CA; 4 Department of Public Health Sciences and Epidemiology, University of Hawaii, Manoa; 5 Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor; 6 Department of Preventive Medicine and Epidemiology, Loyola University Medical Center, Maywood, IL; 7 Department of Medicine, University of Mississippi Medical Center, Jackson; 8 Division of Epidemiology, University of Minnesota, Minneapolis; 9 Division of Biostatistics, Washington University School of Medicine, St. Louis; 10 Cardiovascular Genetics, Department of Internal Medicine, University of Utah, Salt Lake City; 11 Institute for Molecular Medicine and Human Genetics Center, University of Texas-Houston Health Science Center, Houston; 12 Polymorphism Research Laboratory, Department of Psychiatry, Univers |
| AuthorAffiliation_xml | – name: 1 Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle; 2 Division of Cardiovascular Medicine and 3 Department of Genetics, Stanford University School of Medicine, Stanford, CA; 4 Department of Public Health Sciences and Epidemiology, University of Hawaii, Manoa; 5 Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor; 6 Department of Preventive Medicine and Epidemiology, Loyola University Medical Center, Maywood, IL; 7 Department of Medicine, University of Mississippi Medical Center, Jackson; 8 Division of Epidemiology, University of Minnesota, Minneapolis; 9 Division of Biostatistics, Washington University School of Medicine, St. Louis; 10 Cardiovascular Genetics, Department of Internal Medicine, University of Utah, Salt Lake City; 11 Institute for Molecular Medicine and Human Genetics Center, University of Texas-Houston Health Science Center, Houston; 12 Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego; and 13 Division of Research, Kaiser Permanente, Oakland, CA |
| Author_xml | – sequence: 1 givenname: Hua surname: Tang fullname: Tang, Hua organization: Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle – sequence: 2 givenname: Tom surname: Quertermous fullname: Quertermous, Tom organization: Division of Cardiovascular Medicine Stanford, CA – sequence: 3 givenname: Beatriz surname: Rodriguez fullname: Rodriguez, Beatriz organization: Department of Public Health Sciences and Epidemiology, University of Hawaii, Manoa – sequence: 4 givenname: Sharon L.R. surname: Kardia fullname: Kardia, Sharon L.R. organization: Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor – sequence: 5 givenname: Xiaofeng surname: Zhu fullname: Zhu, Xiaofeng organization: Department of Preventive Medicine and Epidemiology, Loyola University Medical Center, Maywood, IL – sequence: 6 givenname: Andrew surname: Brown fullname: Brown, Andrew organization: Department of Medicine, University of Mississippi Medical Center, Jackson – sequence: 7 givenname: James S. surname: Pankow fullname: Pankow, James S. organization: Division of Epidemiology, University of Minnesota, Minneapolis – sequence: 8 givenname: Michael A. surname: Province fullname: Province, Michael A. organization: Division of Biostatistics, Washington University School of Medicine, St. Louis – sequence: 9 givenname: Steven C. surname: Hunt fullname: Hunt, Steven C. organization: Cardiovascular Genetics, Department of Internal Medicine, University of Utah, Salt Lake City – sequence: 10 givenname: Eric surname: Boerwinkle fullname: Boerwinkle, Eric organization: Institute for Molecular Medicine and Human Genetics Center, University of Texas-Houston Health Science Center, Houston – sequence: 11 givenname: Nicholas J. surname: Schork fullname: Schork, Nicholas J. organization: Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego – sequence: 12 givenname: Neil J. surname: Risch fullname: Risch, Neil J. email: risch@lahmed.stanford.edu organization: Department of Genetics, Stanford University School of Medicine, Stanford, CA |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16466858$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/15625622$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Biological and medical sciences Case-Control Studies Cluster Analysis Confounding Factors (Epidemiology) Continental Population Groups - genetics Ethnic Groups - genetics Female General aspects. Genetic counseling Genetic Predisposition to Disease Genetics, Population Genotype Geography Humans Hypertension Hypertension - genetics Male Medical genetics Medical sciences Microsatellite Repeats Minority & ethnic groups Population genetics Public health Reproducibility of Results United States |
| Title | Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies |
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