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一种 CYP2J2 基因的新突变与中国维吾尔族人群的冠心病相关。

A novel polymorphism of the CYP2J2 gene is associated with coronary artery disease in Uygur population in China.

机构信息

Department of Cardiovascular Medicine, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.

Department of Cardiovascular Medicine, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.

出版信息

Clin Biochem. 2013 Aug;46(12):1047-1054. doi: 10.1016/j.clinbiochem.2013.05.003. Epub 2013 May 15.

DOI:10.1016/j.clinbiochem.2013.05.003
PMID:23684773
Abstract

BACKGROUND

Cytochrome P450 (CYP) 2J2 is expressed in the vascular endothelium and metabolizes arachidonic acid to biologically active epoxyeicosatrienoic acids (EETs). The EETs are potent endogenous vasodilators and inhibitors of vascular inflammation. The aim of the present study was to assess the association between the human CYP2J2 gene polymorphism and coronary artery disease (CAD) in a Han and Uygur population of China.

METHODS

We use two independent case-control studies: a Han population (206 CAD patients and 262 control subjects) and an Uygur population (336 CAD patients and 448 control subjects). All CAD patients and controls were genotyped for the same three single nucleotide polymorphisms (SNPs) (rs890293, rs11572223 and rs2280275) of CYP2J2 gene by a real-time PCR instrument.

RESULTS

In the Uygur population, for total, the distribution of SNP3 (rs2280275) genotypes showed a significant difference between CAD and control participants (P=0.048). For total and men, the distribution of SNP3 (rs2280275) alleles and the dominant model (CC vs CT+TT) showed a significant difference between CAD and control participants (for allele: P=0.014 and P=0.035, respectively; for dominant model: P=0.014 and P=0.034, respectively). The significant difference in dominant model was retained after adjustment for covariates (OR: 0.279, 95% confidence interval [CI]: 0.176-0.440, P=0.001; OR: 0.240, 95% CI: 0.128-0.457, P=0.001, respectively).

CONCLUSIONS

The CC genotype of rs2280275 in CYP2J2 gene could be a protective genetic marker of CAD and T allele may be a risk genetic marker of CAD in men of Uygur population in China.

摘要

背景

细胞色素 P450(CYP)2J2 表达于血管内皮细胞,将花生四烯酸代谢为具有生物活性的环氧化物三烯酸(EETs)。EETs 是强效的内源性血管舒张剂和血管炎症抑制剂。本研究旨在评估 CYP2J2 基因多态性与中国汉族和维吾尔族人群冠心病(CAD)之间的相关性。

方法

我们采用了两项独立的病例对照研究:汉族人群(206 例 CAD 患者和 262 例对照者)和维吾尔族人群(336 例 CAD 患者和 448 例对照者)。应用实时 PCR 仪器对 CYP2J2 基因的三个相同单核苷酸多态性(SNP)(rs890293、rs11572223 和 rs2280275)对所有 CAD 患者和对照者进行基因分型。

结果

在维吾尔族人群中,SNP3(rs2280275)基因型的总分布在 CAD 和对照组参与者之间存在显著差异(P=0.048)。对于总人群和男性,SNP3(rs2280275)等位基因和显性模型(CC 对 CT+TT)的分布在 CAD 和对照组参与者之间存在显著差异(对于等位基因:P=0.014 和 P=0.035;对于显性模型:P=0.014 和 P=0.034)。经协变量调整后,显性模型的显著差异仍然存在(OR:0.279,95%置信区间[CI]:0.176-0.440,P=0.001;OR:0.240,95% CI:0.128-0.457,P=0.001)。

结论

CYP2J2 基因 rs2280275 的 CC 基因型可能是 CAD 的保护性遗传标志物,T 等位基因可能是中国维吾尔族男性 CAD 的风险遗传标志物。

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