Slone Epidemiology Center, Boston University, Boston, MA, USA.
Hum Genet. 2010 Jun;127(6):629-38. doi: 10.1007/s00439-010-0803-x. Epub 2010 Mar 6.
Genetic ancestry and environmental factors may contribute to the ethnic differences in risk of coronary heart disease (CHD), metabolic syndrome (MS) or its individual components. The population of the Central Valley of Costa Rica offers a unique opportunity to assess the role of genetic ancestry in these chronic diseases because it derived from the admixture of a relatively small number of founders of Southern European, Amerindian, and West African origin. We aimed to determine whether genetic ancestry is associated with risk of myocardial infarction (MI), MS and its individual components in the Central Valley of Costa Rica. We genotyped 39 ancestral informative markers in cases (n = 1,998) with a first non-fatal acute MI and population-based controls (n = 1,998) matched for age, sex, and area of residence, to estimate individual ancestry proportions. Odds ratios (ORs) and 95% confidence intervals (95% CI) were estimated using conditional (MI) and unconditional (MS and its components) logistic regression adjusting for relevant confounders. Mean individual ancestry proportions in cases and controls were 57.5 versus 57.8% for the Southern European, 38.4 versus 38.3% for the Amerindian and 4.1 versus 3.8% for the West African ancestry. Compared with Southern European ancestry, each 10% increase in West African ancestry was associated with a 29% increase in MI, OR (95% CI) = 1.29 (1.07, 1.56), and with a 30% increase on the risk of hypertension, OR (95% CI) = 1.30 (1.00, 1.70). Each 10% increase in Amerindian ancestry was associated with a 14% increase on the risk of MS, OR (95% CI) = 1.14 (1.00, 1.30), and 20% increase on the risk of impaired fasting glucose, OR (95% CI) = 1.20 (1.01, 1.42). These results show that the high variability of admixture proportions in the Central Valley population offers a unique opportunity to uncover the genetic basis of ethnic differences on the risk of disease.
遗传背景和环境因素可能导致冠心病（CHD）、代谢综合征（MS）或其各个成分的风险在不同种族间存在差异。哥斯达黎加中央山谷的人群为评估遗传背景在这些慢性疾病中的作用提供了一个独特的机会，因为它源自于相对较少的南欧、美洲印第安人和西非起源的混合。我们旨在确定遗传背景是否与哥斯达黎加中央山谷的心肌梗死（MI）、MS及其各个成分的风险相关。我们对 1998 例首次非致命性急性 MI 患者（病例组）和年龄、性别和居住地相匹配的基于人群的 1998 例对照（对照组）进行了 39 个祖先信息标记物的基因分型，以估计个体的遗传背景比例。使用条件（MI）和无条件（MS 及其成分）逻辑回归来估计比值比（OR）和 95%置信区间（95%CI），并调整了相关混杂因素。病例组和对照组个体遗传背景比例的平均值分别为南欧裔 57.5%，美洲印第安裔 38.4%，西非裔 4.1%。与南欧裔相比，西非裔遗传背景每增加 10%，MI 的风险增加 29%，OR（95%CI）=1.29（1.07，1.56），高血压的风险增加 30%，OR（95%CI）=1.30（1.00，1.70）。美洲印第安裔遗传背景每增加 10%，MS 的风险增加 14%，OR（95%CI）=1.14（1.00，1.30），空腹血糖受损的风险增加 20%，OR（95%CI）=1.20（1.01，1.42）。这些结果表明，中央山谷人群中混合比例的高度变异性为揭示疾病风险的种族差异的遗传基础提供了一个独特的机会。
