Lisabeth Lynda D, Morgenstern Lewis B, Burke David T, Sun Yan V, Long Jeffrey C
Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI, USA.
Ann Hum Genet. 2011 Jul;75(4):508-15. doi: 10.1111/j.1469-1809.2011.00657.x.
To test for and characterize heterogeneity in ancestral contributions to individuals among a population of Mexican American (MA) and non-Hispanic white (NHW) stroke/transient ischemic attack (TIA) cases, data from a community-based stroke surveillance study in south Texas were used. Strokes/TIA cases were identified (2004-2006) with a random sample asked to provide blood. Race-ethnicity was self-reported. Thirty-three ancestry informative markers were genotyped and individual genetic admixture estimated using maximum likelihood methods. Three hypotheses were tested for each MA using likelihood ratio tests: (1) H(0) : μi = 0 (100% Native American), (2) H(0) : μi = 1.00 (100% European), (3) H(0) : μi = 0.59 (average European). Among 154 self-identified MAs, estimated European ancestry varied from 0.26 to 0.98, with an average of 0.59 (SE = 0.014). We rejected hypothesis 1 for every MA and rejected hypothesis 2 for all but two MAs. We rejected hypothesis 3 for 40 MAs (20 < 59%, 20 > 59%). Among 84 self-identified NHWs, the estimated fraction of European ancestry ranged from 0.83 to 1.0, with an average of 0.97 (SE = 0.014). Self-identified MAs, and to a lesser extent NHWs, from an established bi-ethnic community were heterogeneous with respect to genetic admixture. Researchers should not use simple race-ethnic categories as proxies for homogeneous genetic populations when conducting gene mapping and disease association studies in multi-ethnic populations.
为了检测并描述墨西哥裔美国人(MA)和非西班牙裔白人(NHW)中风/短暂性脑缺血发作(TIA)病例群体中个体祖先贡献的异质性,我们使用了德克萨斯州南部一项基于社区的中风监测研究的数据。通过随机抽样识别出中风/TIA病例(2004 - 2006年)并要求其提供血液样本。种族 - 民族由自我报告确定。对33个祖先信息标记进行基因分型,并使用最大似然法估计个体遗传混合比例。对每个MA使用似然比检验来检验三个假设:(1)H(0) : μi = 0(100% 美洲原住民),(2)H(0) : μi = 1.00(100% 欧洲人),(3)H(0) : μi = 0.59(欧洲人平均比例)。在154名自我认定的MA中,估计的欧洲血统比例从0.26到0.98不等,平均为0.59(标准误 = 0.014)。我们拒绝了每个MA的假设1,除了两名MA外,拒绝了假设2。我们拒绝了40名MA的假设3(20 < 59%;20 > 59%)。在84名自我认定的NHW中,估计的欧洲血统比例范围为0.83至1.0,平均为0.97(标准误 = 0.014)。来自一个既定的双族裔社区的自我认定的MA,以及在较小程度上的NHW,在遗传混合方面存在异质性。在多族裔人群中进行基因定位和疾病关联研究时,研究人员不应使用简单的种族 - 民族类别作为同质基因群体的替代。