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遗传变异对中国人群脂质参数和血脂异常的影响。

Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population.

机构信息

Institutes of Biomedical Sciences, Fudan University, Shanghai, PR China.

出版信息

J Lipid Res. 2011 Feb;52(2):354-60. doi: 10.1194/jlr.P007476. Epub 2010 Dec 12.

DOI:10.1194/jlr.P007476
PMID:21149302
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3023556/
Abstract

A number of recent genome-wide association (GWA) studies have identified several novel genetic determinants of plasma lipid and lipoprotein concentrations in European populations. However, it is still unclear whether these loci identified in Caucasian GWA studies also exert the same effect on lipid and lipoprotein concentrations in a Chinese population. We genotyped 10 single-nucleotide polymorphisms (SNPs) in nine loci in a Chinese Han population sample (n = 4,192) and assessed the associations of these SNPs with metabolic traits, using linear regression adjusted for age, gender, diabetes status, and body mass index. Three variants (rs12654264, P ∼ 1.7 × 10(-6); rs3764261, P ∼ 7.1 × 10(-7); and rs4420638, P ∼ 1.1 × 10(-3)) showed strong evidence for association with total cholesterol; four variants (rs780094, P ∼ 1.8 × 10(-11); rs17145738, P ∼ 5.0 × 10(-7); rs326, P ∼ 2.3 × 10(-6); and rs439401, P ∼ 2.2 × 10(-5)) showed strong evidence for association with triglycerides, four variants (rs17145738, P ∼ 1.9 × 10(-4); rs326, P ∼ 9.7 × 10(-4); rs1800588, P ∼ 1.5 × 10(-7); and rs3764261, P ∼ 4.3 × 10(-14)) showed strong evidence for association with HDL-cholesterol (HDL-C), two variants (rs12654264, P ∼ 2.3 × 10(-5); and rs4420638, P ∼ 3.6 × 10(-4)) showed strong evidence for association with LDL-C, and four variants (rs326, P ∼ 2.8 × 10(-3); rs1800588, P ∼ 6.1 × 10(-4); rs3764261, P ∼ 2.0 × 10(-3); and rs4420638, P ∼ 9.4 × 10(-5)) showed strong evidence for association with total cholesterol-HDL-C-related ratio. These SNPs generated strong combined effects on lipid traits and dyslipidemia. Our findings indicate that the variants that associated with metabolic traits in Europeans may also play a role in a Chinese Han population.

摘要

一些最近的全基因组关联(GWA)研究已经确定了一些新的血浆脂质和脂蛋白浓度的欧洲人群的遗传决定因素。然而,目前尚不清楚这些在白种人 GWA 研究中发现的位点是否也对中国人群的脂质和脂蛋白浓度产生相同的影响。我们在一个中国汉族人群样本(n = 4192)中对 9 个位点的 10 个单核苷酸多态性(SNP)进行了基因分型,并使用线性回归调整年龄、性别、糖尿病状态和体重指数来评估这些 SNP 与代谢特征的相关性。三个变体(rs12654264,P∼1.7×10(-6);rs3764261,P∼7.1×10(-7);和 rs4420638,P∼1.1×10(-3)) 与总胆固醇呈强烈关联;四个变体(rs780094,P∼1.8×10(-11);rs17145738,P∼5.0×10(-7);rs326,P∼2.3×10(-6);和 rs439401,P∼2.2×10(-5)) 与甘油三酯呈强烈关联,四个变体(rs17145738,P∼1.9×10(-4);rs326,P∼9.7×10(-4);rs1800588,P∼1.5×10(-7);和 rs3764261,P∼4.3×10(-14)) 与高密度脂蛋白胆固醇(HDL-C)呈强烈关联,两个变体(rs12654264,P∼2.3×10(-5);和 rs4420638,P∼3.6×10(-4)) 与 LDL-C 呈强烈关联,四个变体(rs326,P∼2.8×10(-3);rs1800588,P∼6.1×10(-4);rs3764261,P∼2.0×10(-3);和 rs4420638,P∼9.4×10(-5)) 与总胆固醇-高密度脂蛋白胆固醇相关比值呈强烈关联。这些 SNP 对脂质特征和血脂异常产生了强烈的综合影响。我们的研究结果表明,与欧洲人代谢特征相关的变异体也可能在中国汉族人群中发挥作用。

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