Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed an...

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Vydané v:Genetics (Austin) Ročník 200; číslo 4; s. 1285 - 1295
Hlavní autori: Banda, Yambazi, Kvale, Mark N, Hoffmann, Thomas J, Hesselson, Stephanie E, Ranatunga, Dilrini, Tang, Hua, Sabatti, Chiara, Croen, Lisa A, Dispensa, Brad P, Henderson, Mary, Iribarren, Carlos, Jorgenson, Eric, Kushi, Lawrence H, Ludwig, Dana, Olberg, Diane, Quesenberry, Charles P, Rowell, Sarah, Sadler, Marianne, Sakoda, Lori C, Sciortino, Stanley, Shen, Ling, Smethurst, David, Somkin, Carol P, Van Den Eeden, Stephen K, Walter, Lawrence, Whitmer, Rachel A, Kwok, Pui-Yan, Schaefer, Catherine, Risch, Neil
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: United States Genetics Society of America 01.08.2015
Predmet:
Adult
Adults
Aging
Aging - genetics
Cohort Studies
Continental Population Groups - genetics
Epidemiology
Ethnic Groups - genetics
Ethnicity
Female
Genealogy
Genetic structure
Genetics
Genomics
Genotypes
Health
Humans
Investigations
Male
Middle Aged
Molecular Epidemiology
Pedigree
Principal Component Analysis
RPGEH GERA
principal components
admixture
population structure
race/ethnicity
ISSN:1943-2631, 0016-6731, 1943-2631
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Popis
Shrnutí:Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian–European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent–child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent–child pairs was largely due to intermarriage. The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies.
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These authors contributed equally to this work.
ISSN:1943-2631
0016-6731
1943-2631
DOI:10.1534/genetics.115.178616