- 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
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.