Risk-Association of DNMT1 Gene Polymorphisms with Coronary Artery Disease in Chinese Han Population.
Risk-Association of DNMT1 Gene Polymorphisms with Coronary Artery Disease in Chinese Han Population.
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DNMT1基因多态性与中国汉族人群冠心病的风险关联
DOI：
10.3390/ijms151222694
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发表时间：
2014-12-08
影响因子：
5.6
通讯作者：
Zheng F
中科院分区：
文献类型：
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作者：
Peng C;Deng Q;Li Z;Xiong C;Li C;Zheng F
近年来，人们认识到表观遗传因素在冠心病发病机制中起重要作用。在此，我们评估了中国汉族人群中表观遗传调控基因DNA甲基转移酶1（DNMT 1）的候选单核苷酸多态性（SNP）与CAD的可能关联。采用高分辨率熔解曲线（High Resolution Melt，HRM）方法对476例冠心病患者和478例正常对照者的5个标签SNPs（rs 16999593，rs 2336691，rs 2228611，rs 4804494，rs7253062）进行分析。总体而言，患者和对照组之间rs 2228611和rs 2336691的基因型和等位基因分布存在显著差异。rs 2228611的次要A等位基因与较低的CAD风险相关（p = 0.034）;在加性分析中，影响不大，但在隐性模型中也有边际显著性[OR加性= 0.404（0.184，0.884），p = 0.023和OR隐性= 0.452（0.213，0.963），p = 0.040]。而rs 2336691 A等位基因与发生CAD的风险较高相关（p = 0.037）;在加性和显性模型中均具有边缘显著性关联[OR加性= 1.632（1.030，2.583），p = 0.037和OR显性= 1.599（1.020，2.507），p = 0.040]。总之，这些数据提供了第一个证据表明，CAD的发生可能是由参与表观遗传机制的基因中的遗传变异所调节的。
Recently, a significant epigenetic component in the pathogenesis of Coronary Artery Disease (CAD) has been realized. Here, we evaluated the possible association of candidate Single Nucleotide Polymorphisms (SNPs) in the epigenetic-regulatory gene, DNA methyltransferase 1 (DNMT1), with CAD in Chinese Han population. Five tag SNPs (rs16999593, rs2336691, rs2228611, rs4804494, rs7253062) were analyzed by High Resolution Melt (HRM) method in 476 CAD patients and 478 controls. Overall, there were significant differences in the genotype and allele distributions of rs2228611 and rs2336691, between patients and controls. The minor A allele of rs2228611 was associated with a lower risk of CAD (p = 0.034); modest effect in the additive analysis but also marginal significance was found in the recessive model [ORadditive = 0.404 (0.184, 0.884), p = 0.023 and ORrecessive = 0.452 (0.213, 0.963), p = 0.040] after adjusting for confounders. While the rs2336691 A allele were associated with a higher risk of developing CAD (p = 0.037); borderline significant association in both additive and dominant models [ORadditive = 1.632 (1.030, 2.583), p = 0.037 and ORdominant = 1.599 (1.020, 2.507), p = 0.040]. In conclusion, these data provide the first evidence that occurrence of CAD may be moderated by genetic variation in the gene involved in the epigenetic machinery.
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DOI：
10.1161/circgenetics.113.000320
发表时间：
2014-04
期刊：
Circulation. Cardiovascular genetics
影响因子：
--
作者：
Breton CV;Park C;Siegmund K;Gauderman WJ;Whitfield-Maxwell L;Hodis HN;Avol E;Gilliland FD
通讯作者：
Gilliland FD
影响因子：
3.5
作者：
Sharma, Priyanka;Garg, Gaurav;Sengupta, Shantanu
通讯作者：
Sengupta, Shantanu
影响因子：
5.3
作者：
Zawadzki, Christophe;Chatelain, Nicolas;Jude, Brigitte
通讯作者：
Jude, Brigitte
影响因子：
4.7
作者：
Subramaniam D;Thombre R;Dhar A;Anant S
通讯作者：
Anant S
DOI：
10.1161/atvbaha.112.300144
发表时间：
2013-02
期刊：
Arteriosclerosis, thrombosis, and vascular biology
影响因子：
--
作者：
Fernández-Hernando C;Ramírez CM;Goedeke L;Suárez Y
通讯作者：
Suárez Y