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酰基辅酶 A:胆固醇酰基转移酶-2 基因多态性与中国新疆维吾尔族人群冠心病易感性增加相关。

Acyl-CoA: cholesterol acyltransferases-2 gene polymorphism is associated with increased susceptibility to coronary artery disease in Uygur population in Xinjiang, China.

机构信息

Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, P.R. China.

Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi 830054, P.R. China.

出版信息

Biosci Rep. 2019 Feb 26;39(2). doi: 10.1042/BSR20182129. Print 2019 Feb 28.

DOI:10.1042/BSR20182129
PMID:30696703
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6390127/
Abstract

BACKGROUND

Acyl-CoA: cholesterol acyltransferases (ACAT) is the only enzyme that catalyzes the synthesis of cholesterol esters (CE) from free cholesterol and long-chain fatty acyl-CoA and plays a critical role in cellular cholesterol homeostasis. In the present study, our primary objective was to explore whether the single-nucleotide polymorphisms (SNPs) in ACAT-2 gene were associated with coronary artery disease (CAD) in Uygur subjects, in Xinjiang, China.

METHODS

We designed a case-control study including 516 CAD patients and 318 age- and sex-matched control subjects. Using the improved multiplex ligation detection reaction (iMLDR) method, we genotyped two SNPs (rs28765985 and rs7308390) of ACAT-2 gene in all subjects.

RESULTS

We found that the genotypes, the dominant model (CC + CT vs TT) and over-dominant model (CT vs CC + TT) of rs28765985 were significantly different between CAD patients and the controls (=0.027, =0.012 and =0.035, respectively). The rs28765985 C allele was associated with a significantly elevated CAD risk [CC/CT vs TT: odds ratio (OR) = 1.48, 95% confidence interval (CI) = 1.02-2.16, =0.04] after adjustment for confounders. The TC and LDL-C levels were significantly higher in rs28765985 CC/CT genotypes than that in TT genotypes (<0.05).

CONCLUSIONS

Rs28765985 of ACAT-2 gene are associated with CAD in Uygur subjects. Subjects with CC/CT genotype or C allele of rs28765985 were associated with an increased risk of CAD.

摘要

背景

酰基辅酶 A:胆固醇酰基转移酶(ACAT)是唯一能够催化游离胆固醇与长链脂肪酸辅酶 A合成胆固醇酯(CE)的酶,在细胞胆固醇稳态中起着至关重要的作用。本研究旨在探讨中国新疆维吾尔族人群中 ACAT-2 基因的单核苷酸多态性(SNPs)是否与冠心病(CAD)相关。

方法

我们设计了一项病例对照研究,纳入了 516 例 CAD 患者和 318 名年龄和性别匹配的对照者。采用改良多重连接依赖性探针扩增(iMLDR)法对所有研究对象的 ACAT-2 基因中的两个 SNPs(rs28765985 和 rs7308390)进行基因分型。

结果

我们发现 rs28765985 的基因型、显性模型(CC+CT 与 TT)和超显性模型(CT 与 CC+TT)在 CAD 患者与对照组之间存在显著差异(=0.027,=0.012 和=0.035)。与 TT 基因型相比,rs28765985 的 C 等位基因与 CAD 风险显著升高相关[CC/CT 与 TT:比值比(OR)=1.48,95%置信区间(CI)=1.02-2.16,=0.04],校正混杂因素后结果仍具有统计学意义。rs28765985 的 CC/CT 基因型的 TC 和 LDL-C 水平显著高于 TT 基因型(<0.05)。

结论

ACAT-2 基因的 rs28765985 与维吾尔族人群的 CAD 相关。携带 rs28765985 CC/CT 基因型或 C 等位基因的个体患 CAD 的风险增加。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45b9/6390127/71efb1b98624/bsr-39-bsr20182129-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45b9/6390127/71efb1b98624/bsr-39-bsr20182129-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45b9/6390127/71efb1b98624/bsr-39-bsr20182129-g1.jpg

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