Investigation of the Frequency of IL27 Gene -964 A>G Polymorphism (rs153109) in Infants with a History of Heart Wall Defects in Yazd

Congenital Heart Disease (CHD) is one of the leading causes of infant mortality with some problems in the heart's structure at birth. One of the most common congenital heart diseases is the septal defect, in which there is a hole in the wall (septum). Although the etiology of CHD is mainly unknown, numerous studies have suggested both genetic and environmental factors contribute to the development of this disease. This study aims to investigate the frequency of -964 A>G polymorphism (rs153109) in the IL27 gene in infants with CHD in Yazd province, Iran. The study included 30 infants with CHD. We genotyped the IL27 polymorphism by using the PCR- Sequencing technique. Data revealed that the frequencies of AA, AG, and GG among the population of Yazd province were 40%, 40%, and 20%, respectively. The frequency of A and G alleles were 60% and 40%, respectively. The higher frequency of the A allele in patients with CHD compared to the G allele suggests that the A allele may increase atrial septal defect and ventricular septal defect susceptibility in Yazd province. It is recommended that the presence of the A allele and AG genotype be used as a predictor for the development of septal defects.