Association of miR-21 rs1292037 polymorphism with congenital heart disease susceptibility in Chinese children.

Background: Congenital heart disease (CHD) is a condition characterized by structural or functional abnormalities of the cardiovascular system present at birth. This study investigated the correlation between microRNA-21 (miR-21) rs1292037 and rs13137 polymorphisms and children with CHD.

Materials and methods: The study included 305 CHD children and 303 healthy children. The TaqMan real-time fluorescent quantitative PCR (qPCR) method was used to genotype miR-21 SNPs. The RT-qPCR method was adopted to quantify the miR-21 expression. Multivariate logistic regression analysis was performed to investigate the CHD risk factors.

Results: The rs1292037 TC (OR = 1.527, 95% CI = 1.045-2.231, p = 0.028), CC (OR = 1.747, 95% CI = 1.114-2.742, p = 0.015) genotypes, and C allele (OR = 1.338, 95% CI = 1.068-1.677, p = 0.011) might be strongly associated with an elevated risk of CHD. MiR-21 was upregulated in CHD patients (p < 0.05). Individuals with the rs1292037 TC and CC genotypes exhibited higher miR-21 expression (p < 0.05). In contrast, no significant differences in miR-21 expression were observed among genotypes at rs13137 (p > 0.05). MiR-21, rs1292037, left ventricular end-systolic diameter, and ejection fraction were significantly linked to disease risk (p < 0.05), whereas rs13137 did not show a significant association with disease risk.

Conclusion: The miR-21 rs1292037 polymorphism was significantly linked to CHD genetic predisposition, while the rs13137 polymorphism had no strong association.