33 个遗传位点常见 DNA 序列变异与牙买加非洲裔个体血脂的关联。
Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica.
机构信息
Cardiovascular Research Center and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
出版信息
Hum Genet. 2010 Nov;128(5):557-61. doi: 10.1007/s00439-010-0887-3. Epub 2010 Sep 14.
Abstract
The relevance of loci associated with blood lipids recently identified in European populations in individuals of African ancestry is unknown. We tested association between lipid traits and 36 previously described single-nucleotide polymorphisms (SNPs) in 1,466 individuals of African ancestry from Spanish Town, Jamaica. For the same allele and effect direction as observed in individuals of European ancestry, SNPs at three loci (1p13, 2p21, and 19p13) showed statistically significant association (p < 0.05) with LDL, two loci (11q12 and 20q13) showed association with HDL cholesterol, and two loci (11q12 and 2p24) showed association with triglycerides. The most significant association was between a SNP at 1p13 and LDL cholesterol (p = 4.6 × 10(-8)). This SNP is in a linkage disequilibrium region containing four genes (CELSR2, PSRC1, MYBPHL, and SORT1) and was recently shown to relate to risk for myocardial infarction. Overall, the results of this study suggest that much of the genetic variation which influences blood lipids is shared across ethnic groups.
摘要
最近在欧洲人群中发现的与血脂相关的基因座与非洲裔个体的相关性尚不清楚。我们在来自牙买加西班牙镇的 1466 名非洲裔个体中检测了血脂特征与 36 个先前描述的单核苷酸多态性（SNP）之间的关联。对于与欧洲裔个体观察到的相同等位基因和效应方向，三个基因座（1p13、2p21 和 19p13）的 SNP 与 LDL 呈统计学显著关联（p < 0.05），两个基因座（11q12 和 20q13）与 HDL 胆固醇呈关联，两个基因座（11q12 和 2p24）与甘油三酯呈关联。与 LDL 胆固醇关联最显著的 SNP 位于 1p13（p = 4.6×10(-8)）。该 SNP 位于包含四个基因（CELSR2、PSRC1、MYBPHL 和 SORT1）的连锁不平衡区域，最近被证明与心肌梗死风险相关。总的来说，这项研究的结果表明，影响血脂的大部分遗传变异在不同种族群体中是共有的。
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