Association Between miR-143/145 rs4705343 Polymorphism and Risk of Congenital Heart Disease in a Chinese Tibetan Population

Objective: Congenital heart disease (CHD) is the most common birth defect worldwide and is caused by both genetic and environmental factors. The microRNA (miR)-143/145 cluster is involved in various biological processes related to cardiovascular development. The functional single nucleotide polymorphism (SNP) rs4705343 of miR-143/145 may influence the expression of these miRNAs. In this study, we aimed to estimate the association between miR-143/145 rs4705343 and the risk of CHD in a Chinese Tibetan population.Methods: Matrix-assisted laser desorption ionization time-of-flight mass spectrometry assays were performed to genotype the miRNA-143/145 rs4705343 SNP in 510 CHD Tibetan patients and 681 unrelated Tibetan healthy controls. The associations between the SNP frequencies and the CHD risk were analyzed by chi(2) test/Fisher's test and assessed by odds ratios (ORs) and 95% confidence intervals (95% CIs).Results: We successfully genotyped 1165 subjects with a SNP call rate of 97.8%. Under the allelic model we found that rs4705343 was not associated with the risk of CHD (p = 0.082), but under the recessive model the CC genotype at this locus was associated with a significantly increased risk of CHD compared with the other genotypes (CC vs TT+TC: OR = 1.60, 95% CI = 1.08-2.37, p = 0.017).Conclusion: The present study suggests that the rs4705343 CC genotype of miR-143/145 is associated with CHD risk in a Chinese Tibetan population.