Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population.

Recent evidence has shown that the microRNA polymorphism may play an important role in the susceptibility to congenital heart disease (CHD). A potentially functional SNP rs4938723 (T>C) in the promoter region of pri-miR-34b/c might affect transcription factor GATA binding and therefore pri-miR-34b/c expression. We genotyped the pri-miR-34b/c polymorphism in a case-control study of 590 patients and 672 controls in a Han Chinese population and assessed the effects of the pri-miR-34b/c polymorphism on CHD susceptibility by TaqMan SNP genotyping assay. There was no association between the pri-miR-34b/c polymorphism and the risk of CHD in both genotype and allelic frequency. In a subsequent analysis of the association between this polymorphism and CHD classification, there was still no significant difference in both genotype and allelic frequency. Our results suggest that the pri-miR-34b/c polymorphism rs4938723 is not associated with susceptibility to sporadic CHD in the Han Chinese population.