ATP结合盒转运体1基因中的常见变异与高密度脂蛋白胆固醇水平降低及冠状动脉疾病相关。

Common variants in the ATP-binding cassette transporter 1 gene with decreased HDL-cholesterol levels and coronary artery disease.

作者信息

Catakoglu Alp Burak, Duman Belgin Süsleyici, Kurtoğlu Hilal, Ersöz Melike, Sener Murat, Celebi Hüseyin, Cağatay Penbe, Aytekin Vedat, Aytekin Saide

机构信息

Department of Cardiology, Florence Nightingale Hospital, Istanbul, Turkey.

出版信息

Arch Med Res. 2008 Nov;39(8):735-42. doi: 10.1016/j.arcmed.2008.07.008.

DOI:10.1016/j.arcmed.2008.07.008

PMID:18996286

Abstract

BACKGROUND

Our aim was to determine whether the common variants within the coding sequence of ABCA1 gene affects low plasma high-density lipoprotein cholesterol (HDL-C) levels in Turkish patients with coronary artery disease (CAD). The study group was composed of 552 CAD patients, of which 251 had HDL-C levels < or =40 mg/dL, and 301 had HDL-C levels >40 mg/dL.

METHODS

PCR-RFLP was used to determine the A2589G and G3456C DNA polymorphisms of the ABCA1 gene. The study group was analyzed for potential clinical predictors of low HDL-C.

RESULTS

The GG variant of the ABCA1 gene A2589G polymorphism was found in 3.6% patients within the HDL-C < or =40 mg/dL group and in 4% of HDL-C levels >40 mg/dL group. Frequency distributions of the A2589G genotypes were not found to differ significantly among groups. The CC genotype of the G3456C polymorphism was found in 6.8% of HDL-C < or =40 mg/dL group and in 11.6% individuals of the HDL-C levels >40 mg/dL group. Frequency distributions of the G3456G genotypes were not significantly different among groups. The A2589G genotypes were not found to be effective over the analyzed lipid parameters. Among G3456C genotypes, in CAD patients with HDL-C < or =40 mg/dL the low-density lipoprotein (LDL-C) levels were elevated, whereas HDL-C levels decreased in CC genotype carriers compared to GG and GC.

CONCLUSIONS

No significant association was found between cardiovascular endpoints and ABCA1 gene A2589G and G3456C genotypes in this study population.

摘要

背景

我们的目的是确定ABCA1基因编码序列中的常见变异是否会影响土耳其冠心病（CAD）患者的低血浆高密度脂蛋白胆固醇（HDL-C）水平。研究组由552例CAD患者组成，其中251例HDL-C水平≤40mg/dL，301例HDL-C水平＞40mg/dL。

方法

采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法检测ABCA1基因的A2589G和G3456C DNA多态性。对研究组分析低HDL-C的潜在临床预测因素。

结果

在HDL-C≤40mg/dL组中，3.6%的患者存在ABCA1基因A2589G多态性的GG变异，在HDL-C水平＞40mg/dL组中为4%。未发现A2589G基因型的频率分布在各组间有显著差异。在HDL-C≤40mg/dL组中，6.8%的患者存在G3456C多态性的CC基因型，在HDL-C水平＞40mg/dL组中为11.6%。G3456G基因型的频率分布在各组间无显著差异。未发现A2589G基因型对所分析的血脂参数有影响。在G3456C基因型中，与GG和GC基因型携带者相比，HDL-C≤40mg/dL的CAD患者中，CC基因型携带者的低密度脂蛋白（LDL-C）水平升高，而HDL-C水平降低。