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甲硫氨酸亚砜还原酶 A rs10903323 G/A 多态性与中国人群冠心病发病风险增加相关。

Methionine sulfoxide reductase A rs10903323 G/A polymorphism is associated with increased risk of coronary artery disease in a Chinese population.

机构信息

Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang 212002, China.

出版信息

Clin Biochem. 2013 Nov;46(16-17):1668-72. doi: 10.1016/j.clinbiochem.2013.07.011. Epub 2013 Jul 21.

DOI:10.1016/j.clinbiochem.2013.07.011
PMID:23880405
Abstract

OBJECTIVE

Coronary artery disease (CAD) is a complex disease resulting from a combination of environmental and genetic factors. We hypothesized that polymorphisms in methionine sulfoxide reductase A (MSRA: rs10903323 G/A) and vascular endothelial growth factor A (VEGFA: rs699947 C/A, rs2010963 G/C, and rs3025039 C/T) contribute to CAD susceptibility.

DESIGNS AND METHODS

We examined the association between the four polymorphisms and the risk of CAD in a Chinese population of 435 CAD patients and 480 controls. Genotyping was performed using matrix-assisted laser desorption ionization/time-of-flight mass spectrometry (MALDI/TOF-MS).

RESULTS

When the MSRA rs10903323 GG homozygous genotype was used as the reference group, the GA and GA/AA genotypes were associated with a significantly increased risk of CAD (GA vs GG: adjusted OR=1.36, 95% CI=1.02-1.82, p=0.038; GA/AA vs GG: adjusted OR=1.33, 95% CI=1.01-1.76, p=0.042). The AA homozygous genotype was not associated with a risk of CAD. In the recessive model, when the MSRA rs10903323 GG/GA genotypes were used as the reference group, the AA homozygous genotype was not associated with a risk of CAD. Logistic regression analyses revealed that the VEGFA rs699947 C/A, VEGFA rs2010963 G/C, and VEGFA rs3025039 C/T polymorphisms were not associated with a risk of CAD.

CONCLUSIONS

These findings suggest that the functional MSRA rs10903323 G/A polymorphism is associated with CAD development. However, our results allow only a preliminary conclusion, which must be validated with a larger study of a more diverse ethnic population.

摘要

目的

冠心病(CAD)是一种复杂的疾病,由环境和遗传因素共同作用导致。我们假设甲硫氨酸亚砜还原酶 A(MSRA:rs10903323 G/A)和血管内皮生长因子 A(VEGFA:rs699947 C/A、rs2010963 G/C 和 rs3025039 C/T)的多态性与 CAD 的易感性有关。

设计与方法

我们在中国的 435 例 CAD 患者和 480 例对照中研究了这四种多态性与 CAD 风险之间的关系。使用基质辅助激光解吸/飞行时间质谱(MALDI/TOF-MS)进行基因分型。

结果

当 MSRA rs10903323 GG 纯合基因型作为参考组时,GA 和 GA/AA 基因型与 CAD 风险显著增加相关(GA 与 GG:调整后的 OR=1.36,95%CI=1.02-1.82,p=0.038;GA/AA 与 GG:调整后的 OR=1.33,95%CI=1.01-1.76,p=0.042)。AA 纯合基因型与 CAD 风险无关。在隐性模型中,当 MSRA rs10903323 GG/GA 基因型作为参考组时,AA 纯合基因型与 CAD 风险无关。Logistic 回归分析显示,VEGFA rs699947 C/A、VEGFA rs2010963 G/C 和 VEGFA rs3025039 C/T 多态性与 CAD 风险无关。

结论

这些发现表明,功能性 MSRA rs10903323 G/A 多态性与 CAD 发病有关。然而,我们的结果仅允许得出初步结论,必须通过对更多样化的种族人群进行更大规模的研究来验证。

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