Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
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DOI：
10.1534/genetics.115.178616
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发表时间：
2015-08-01
期刊：
影响因子：
3.3
通讯作者：
Risch, Neil
中科院分区：
文献类型：
--
作者：
Banda, Yambazi;Kvale, Mark N.;Risch, Neil
我们利用全基因组基因型，对 Kaiser Permanente 北加州成人健康和老龄化队列多种族遗传流行病学研究的 103,006 名参与者的基因结构进行了表征，并分析了其与自我报告的种族/民族的关系。参与者认可了 23 个种族/民族/国籍类别中的任何一个，这些类别被分为七个主要种族/民族群体。根据自我报告，该群体中 80.8% 是白人，19.2% 是少数族裔； 93.8% 的人支持单一种族/民族，而 6.2% 的人支持两个或更多。主成分（PC）和混合物分析与之前的研究基本一致。大约 17% 的受试者具有来自多个大陆的遗传血统，仅考虑不相邻的地理起源，12% 的受试者在基因上是混合的。自我报告的白人沿着前两个 PC 呈连续分布，表明欧洲民族之间存在广泛的混合。自我认同的东亚民族与基因聚集相关，与广泛的内婚制一致。东亚和欧洲混合遗传血统的个体很容易被识别；我们还在自称为菲律宾人的个体中观察到了少量的欧洲遗传血统。自我报告的非裔美国人和拉丁裔人表现出广泛的欧洲和非洲遗传血统，而后者则表现出美洲原住民遗传血统。在 3741 组经过基因鉴定的亲子对中，93% 的人自我报告的种族/民族一致；在 2018 个基因鉴定的全同胞对中，96% 是一致的；亲子配对比率较低主要是由于异族通婚。随着时间的推移，亲子配对显示出异族通婚不断增加的趋势。支持多个种族/族裔类别的个人群体中的存在为遗传流行病学研究带来了有趣的挑战和未来的机遇。
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.