Jiangsu Key Laboratory of Preventive & Translational Medicine for Geriatric Diseases, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, PR China.
Center for Genetic Epidemiology & Genomics, School of Public Health, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, PR China.
Epigenomics. 2018 Oct;10(10):1279-1287. doi: 10.2217/epi-2018-0007. Epub 2018 Sep 17.
To investigate the effects of mA-single nucleotide polymorphisms (SNPs) on coronary artery disease (CAD).
We examined the association of mA-SNPs with CAD in about 185,000 cases and controls and further performed eQTL and differential expression analyses to support the identified mA-SNPs.
Among the 4390 mA-SNPs detected, 304 seemed to be associated with CAD (p < 0.05). SNP rs12286 was significantly associated with CAD at genome-wide level (p = 4.5 × 10). rs12286 was predicted to influence mA methylation and have the potential to alter regulatory motifs binding, which may in turn regulate the expression of ADAMTS7 (p = 1.26 × 10).
The present study found plenty of CAD-associated mA-SNPs and demonstrated the potential functionality of the identified SNPs.
研究 mA 单核苷酸多态性（SNPs）对冠心病（CAD）的影响。
我们在约 185000 例病例和对照中研究了 mA-SNPs 与 CAD 的相关性，并进一步进行了 eQTL 和差异表达分析，以支持所鉴定的 mA-SNPs。
在所检测的 4390 个 mA-SNPs 中，有 304 个似乎与 CAD 相关（p < 0.05）。SNP rs12286 与 CAD 在全基因组水平上显著相关（p = 4.5×10）。rs12286 被预测会影响 mA 甲基化，并有可能改变调节基序结合，这可能反过来调节 ADAMTS7 的表达（p = 1.26×10）。
本研究发现了大量与 CAD 相关的 mA-SNPs，并证明了所鉴定 SNP 的潜在功能。
