BACKGROUND: Our research explored if Interleukin-6 (IL-6) variants held substantial connection to congenital heart disease (CHD) susceptibility among Chinese Han children.

MATERIAL AND METHODS: A total of 102 CHD children were recruited as the case group while 98 healthy persons were recruited as the control group. We used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) completed genotyping for IL-6 variants rs1800795 and rs1800796. The Hardy-Weinberg equilibrium (HWE) among controls was tested using χ² analysis. Genotype and allele frequencies for variants were compared between groups. Odds ratio (OR) accompanied by 95% confidence interval (CI) reflected the potential link of IL-6 variants to CHD occurrence.

RESULTS: A remarkable increased trend of rs1800795 CC genotype and C allele was detected in the CHD patient group (P<0.05). Individuals carrying rs1800795 CC genotype showed higher risk for CHD (OR=3.763, 95% CI=1.162 – 12.190). In addition, rs1800795 C allele could increase CHD incidence (OR=1.766, 95% CI=1.101 – 2.832). No significant differences were detected in IL-6 gene rs1800796 polymorphism in both genotype and allele distributions between the case group and the control group (P>0.05). These associations had no significant alteration after the adjustment of age, gender, maternal smoking history, and maternal history of diabetes.

CONCLUSIONS: IL-6 variant rs1800795 exhibited a close relation to CHD susceptibility among Chinese Han people while the mutant C allele promoted CHD incidence. But rs1800796 variant showed no such influence.

Keywords: CCAAT-Enhancer-Binding Protein-beta, DNA Copy Number Variations, Heart Defects, Congenital, Alleles, Asians, Case-Control Studies, Child, Child, Preschool, ethnicity, Gene Frequency, Genetic Predisposition to Disease, Genotype, Incidence, Infant, Infant, Newborn, Interleukin-6, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors