Connection of GLI1 variants to congenital heart disease susceptibility: A case-control study

The purpose of this study was to investigate the relationship between glioma-associated oncogene homolog 1 (GLI1) rs2228226 and rs10783826 polymorphisms and congenital heart disease (CHD) risk in a Chinese Han population. Genotyping for our interested polymorphisms was performed using polymerase chain reaction-restriction fragment length polymorphism in 106 CHD patients and 112 healthy controls. Hardy–Weinberg equilibrium status in the control group was also checked via χ(2) test. Differences in genotype and allele frequencies between the case and control groups were analyzed adopting Chi-Squared test as well, and the relative risk of CHD resulting from GLI1 genetic variants was checked via calculating odds ratio (OR) and 95% confidence interval (95%CI). CC genotype of rs2228226 showed significantly higher frequency in CHD patients than in controls (P = .011), indicating that it increased the disease risk (OR = 3.257, 95%CI = 1.280–8.287). Similarly, C allele of the polymorphism elevated CHD incidence by 1.609 folds, compared with G allele (OR = 1.609, 95%CI = 1.089–2.376). However, rs10783826 was not correlated with the occurrence of CHD. GLI1 rs2228226 polymorphism may be a risk factor for CHD in Chinese Han population, but not rs10783826.