Format

Send to

Choose Destination
Genetics. 2015 Aug;200(4):1285-95. doi: 10.1534/genetics.115.178616. Epub 2015 Jun 19.

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

Author information

1
Institute for Human Genetics, University of California, San Francisco, California 94143-0794 banday@humgen.ucsf.edu rischn@humgen.ucsf.edu cathy.schaefer@kp.org.
2
Institute for Human Genetics, University of California, San Francisco, California 94143-0794.
3
Institute for Human Genetics, University of California, San Francisco, California 94143-0794 Department of Epidemiology and Biostatistics, University of California, San Francisco, California 94158-2549.
4
Kaiser Permanente Northern California Division of Research, Oakland, California 94612-2304.
5
Department of Genetics, Stanford University, Stanford, California 94305-5120.
6
Department of Health Research and Policy, Stanford University, Stanford, California 94305-5405.
7
Kaiser Permanente Northern California Division of Research, Oakland, California 94612-2304 banday@humgen.ucsf.edu rischn@humgen.ucsf.edu cathy.schaefer@kp.org.
8
Institute for Human Genetics, University of California, San Francisco, California 94143-0794 Department of Epidemiology and Biostatistics, University of California, San Francisco, California 94158-2549 Kaiser Permanente Northern California Division of Research, Oakland, California 94612-2304 banday@humgen.ucsf.edu rischn@humgen.ucsf.edu cathy.schaefer@kp.org.

Abstract

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.

KEYWORDS:

RPGEH GERA; admixture; population structure; principal components; race/ethnicity

PMID:
26092716
PMCID:
PMC4574246
DOI:
10.1534/genetics.115.178616
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for HighWire Icon for PubMed Central
Loading ...
Support Center