Population structure of Hispanics in the United States: the multi-ethnic study of atherosclerosis.
Population structure of Hispanics in the United States: the multi-ethnic study of atherosclerosis.
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DOI：
10.1371/journal.pgen.1002640
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发表时间：
2012
期刊：
影响因子：
4.5
通讯作者：
Mychaleckyj JC
中科院分区：
文献类型：
--
作者：
Manichaikul A;Palmas W;Rodriguez CJ;Peralta CA;Divers J;Guo X;Chen WM;Wong Q;Williams K;Kerr KF;Taylor KD;Tsai MY;Goodarzi MO;Sale MM;Diez-Roux AV;Rich SS;Rotter JI;Mychaleckyj JC
使用为最小连锁不平衡选择的∼60,000个SNP，我们对来自动脉粥样硬化多种族研究(MESA)的1,374名无关的西班牙裔个体进行了群体结构分析，自我认同对应于中美洲(n = 93)、古巴(n = 50)、多米尼加共和国(n = 203)、墨西哥(n = 708)、波多黎各(n = 192)和南美洲(n = 111)。通过将祖先的主成分(PC)投影到HapMap第三阶段和人类基因组多样性小组(HGDP)的样本，我们显示了前两个PC量化了高加索人、非洲人和美洲原住民的起源，而第三和第四个PC带来了与HGDP美洲原住民样本从南到北的已知地理位置一致的轴，并沿着同一轴进一步将墨西哥台地与中美洲/南美洲样本分开。使用从前四台PC计算的k-Means聚类，我们定义了梅萨拉美裔队列中显示出与自我认同密切一致的四个子组，将这些簇主要标记为多米尼加/古巴、墨西哥、中美洲/南美洲和波多黎各人。为了证明我们在梅萨拉美裔队列中进行遗传分析的建议，我们对LPL和TRIB1基因区域中选定的SNPs的甘油三酯进行了汇集和分层关联分析，以前在高加索人的甘油三酯基因分析中报道过，但在西班牙裔人群中尚未得到证实。我们报告了这两个基因的遗传关联的统计上的显著证据，并进一步证明了在美国西班牙裔人群中进行的遗传关联研究中考虑种群亚结构和遗传异质性的重要性。使用来自大约60,000个不同遗传标记的基因型数据，我们检查了来自多种族动脉粥样硬化研究(MESA)的1,374名无关的西班牙裔个体的群体结构，自我认同对应于中美洲(n = 93)、古巴(n = 50)、多米尼加共和国(n = 203)、墨西哥(n = 708)、波多黎各(n = 192)和南美洲(n = 111)。通过将梅萨拉美裔参与者的遗传祖先与代表全球多样性的参考样本进行比较，我们显示了梅萨拉美裔祖先的主要差异，反映了他们的高加索人、非洲人和土著美国人的起源，其中更细微的差异对应于将梅萨墨西哥人与中美洲/南美洲样本分开的南北地理起源。基于我们的分析，我们定义了梅萨拉美裔队列的四个亚群，它们与以下自我确定的起源地区密切一致：多米尼加/古巴、墨西哥、中美洲/南美洲和波多黎各。我们检查了甘油三酯与选定的遗传标记的关联，并进一步证明了在对美国拉美裔人口进行遗传学研究时，考虑遗传祖先(或与遗传祖先相关的因素)差异的重要性。
Using ∼60,000 SNPs selected for minimal linkage disequilibrium, we perform population structure analysis of 1,374 unrelated Hispanic individuals from the Multi-Ethnic Study of Atherosclerosis (MESA), with self-identification corresponding to Central America (n = 93), Cuba (n = 50), the Dominican Republic (n = 203), Mexico (n = 708), Puerto Rico (n = 192), and South America (n = 111). By projection of principal components (PCs) of ancestry to samples from the HapMap phase III and the Human Genome Diversity Panel (HGDP), we show the first two PCs quantify the Caucasian, African, and Native American origins, while the third and fourth PCs bring out an axis that aligns with known South-to-North geographic location of HGDP Native American samples and further separates MESA Mexican versus Central/South American samples along the same axis. Using k-means clustering computed from the first four PCs, we define four subgroups of the MESA Hispanic cohort that show close agreement with self-identification, labeling the clusters as primarily Dominican/Cuban, Mexican, Central/South American, and Puerto Rican. To demonstrate our recommendations for genetic analysis in the MESA Hispanic cohort, we present pooled and stratified association analysis of triglycerides for selected SNPs in the LPL and TRIB1 gene regions, previously reported in GWAS of triglycerides in Caucasians but as yet unconfirmed in Hispanic populations. We report statistically significant evidence for genetic association in both genes, and we further demonstrate the importance of considering population substructure and genetic heterogeneity in genetic association studies performed in the United States Hispanic population. Using genotype data from about 60,000 distinct genetic markers, we examined population structure in 1,374 unrelated Hispanic individuals from the Multi-Ethnic Study of Atherosclerosis (MESA), with self-identification corresponding to Central America (n = 93), Cuba (n = 50), the Dominican Republic (n = 203), Mexico (n = 708), Puerto Rico (n = 192), and South America (n = 111). By comparing genetic ancestry of MESA Hispanic participants to reference samples representing worldwide diversity, we show major differences in ancestry of MESA Hispanics reflecting their Caucasian, African, and Native American origins, with finer differences corresponding to North-South geographic origins that separate MESA Mexican versus Central/South American samples. Based on our analysis, we define four subgroups of the MESA Hispanic cohort that show close agreement with the following self-identified regions of origin: Dominican/Cuban, Mexican, Central/South American, and Puerto Rican. We examine association of triglycerides with selected genetic markers, and we further demonstrate the importance of considering differences in genetic ancestry (or factors associated with genetic ancestry) when performing genetic studies of the United States Hispanic population.
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影响因子：
9.8
作者：
Chen, Wei-Min;Abecasis, Goncalo R.
通讯作者：
Abecasis, Goncalo R.
影响因子：
30.8
作者：
Kathiresan S;Willer CJ;Peloso GM;Demissie S;Musunuru K;Schadt EE;Kaplan L;Bennett D;Li Y;Tanaka T;Voight BF;Bonnycastle LL;Jackson AU;Crawford G;Surti A;Guiducci C;Burtt NP;Parish S;Clarke R;Zelenika D;Kubalanza KA;Morken MA;Scott LJ;Stringham HM;Galan P;Swift AJ;Kuusisto J;Bergman RN;Sundvall J;Laakso M;Ferrucci L;Scheet P;Sanna S;Uda M;Yang Q;Lunetta KL;Dupuis J;de Bakker PI;O'Donnell CJ;Chambers JC;Kooner JS;Hercberg S;Meneton P;Lakatta EG;Scuteri A;Schlessinger D;Tuomilehto J;Collins FS;Groop L;Altshuler D;Collins R;Lathrop GM;Melander O;Salomaa V;Peltonen L;Orho-Melander M;Ordovas JM;Boehnke M;Abecasis GR;Mohlke KL;Cupples LA
通讯作者：
Cupples LA
影响因子：
2.1
作者：
Li, Yun;Willer, Cristen J.;Ding, Jun;Scheet, Paul;Abecasis, Goncalo R.
通讯作者：
Abecasis, Goncalo R.
影响因子：
9.8
作者：
Chen, Wei-Min;Manichaikul, Ani;Rich, Stephen S.
通讯作者：
Rich, Stephen S.
DOI：
10.1073/pnas.0914618107
发表时间：
2010-05-11
影响因子：
11.1
作者：
Bryc, Katarzyna;Velez, Christopher;Ostrer, Harry
通讯作者：
Ostrer, Harry