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ABC 基因家族单核苷酸多态性与餐后脂蛋白的关联:基于人群的 Hortega 研究结果。

Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.

机构信息

Fundación Investigación Clínico de Valencia, Instituto de Investigación Sanitaria INCLIVA, Avda. Blasco Ibáñez, 17, 46010 Valencia, Spain.

出版信息

Atherosclerosis. 2010 Jul;211(1):203-9. doi: 10.1016/j.atherosclerosis.2010.01.030. Epub 2010 Jan 29.

Abstract

The aim of the study was to determine the influence of twenty single nucleotide polymorphisms (SNPs) of the ABCA1, ABCG1, ABCG5 and ABCG8 genes on the plasmatic concentrations of total cholesterol (TC), HDL and LDL cholesterol (HDLc, LDLc) in the postprandial state with a representative Spanish Caucasian population (1473 individuals, 50.0% women, ages ranging 21-85 years). In men, subjects with the AA genotype of the ABCA1 rs2230806 (R219K) polymorphism were associated with increased plasma LDLc levels, while the ABCA1 haplotype, which included the rs2230806 A allele, was associated with higher TC and LDLc plasma concentrations. In women, significant relationships were found between rs1893590 polymorphisms (ABCG1 gene) and HDLc plasma concentrations (subjects with the AA genotype had lower HDLc levels). For the ABCG8 gene, the rs4148211 polymorphism was associated with higher plasma TC and LDLc concentrations in the total population. Moreover, an ABCG5-G8 haplotype, which included the rs6544718 T allele, was associated with higher HDLc plasma concentrations in women. In conclusion, different SNPs of the ABCA1, ABCG1 and ABCG5-ABCG8 genes were associated, some under gender-specific analysis, with variations in the plasma lipid levels under postprandial conditions in a representative Spanish population.

摘要

本研究旨在确定 ABCA1、ABCG1、ABCG5 和 ABCG8 基因的 20 个单核苷酸多态性(SNPs)对餐后状态下西班牙白种人群(1473 人,50.0%为女性,年龄 21-85 岁)的总胆固醇(TC)、高密度脂蛋白胆固醇(HDLc)和低密度脂蛋白胆固醇(LDLc)血浆浓度的影响。在男性中,ABCA1 rs2230806(R219K)多态性的 AA 基因型与血浆 LDLc 水平升高相关,而包含 rs2230806 A 等位基因的 ABCA1 单倍型与 TC 和 LDLc 血浆浓度升高相关。在女性中,rs1893590 多态性(ABCG1 基因)与 HDLc 血浆浓度之间存在显著关系(AA 基因型的受试者 HDLc 水平较低)。对于 ABCG8 基因,rs4148211 多态性与总人群中更高的 TC 和 LDLc 血浆浓度相关。此外,包含 rs6544718 T 等位基因的 ABCG5-ABCG8 单倍型与女性更高的 HDLc 血浆浓度相关。总之,ABCA1、ABCG1 和 ABCG5-ABCG8 基因的不同 SNPs 与餐后状态下的血浆脂质水平变化相关,其中一些与性别特异性分析相关,这在一个具有代表性的西班牙人群中得到了验证。

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