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Int. J. Mol. Sci. 2014, 15(12), 22694-22705;

Risk-Association of DNMT1 Gene Polymorphisms with Coronary Artery Disease in Chinese Han Population

Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Rd 169, Wuhan 430071, China
Department of Molecular Pathology, International Agency for Research on Cancer, 150 Cours Albert Thomas, Lyon 69372, France
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 10 October 2014 / Revised: 27 November 2014 / Accepted: 28 November 2014 / Published: 8 December 2014
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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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. View Full-Text
Keywords: DNA methylation; coronary heart disease; DNMT1; SNP DNA methylation; coronary heart disease; DNMT1; SNP

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Peng, C.; Deng, Q.; Li, Z.; Xiong, C.; Li, C.; Zheng, F. Risk-Association of DNMT1 Gene Polymorphisms with Coronary Artery Disease in Chinese Han Population. Int. J. Mol. Sci. 2014, 15, 22694-22705.

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