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 chi(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 fromGLI1genetic 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. GLI1rs2228226 polymorphism may be a risk factor for CHD in Chinese Han population, but not rs10783826.