Shahid Sadoughi University of Medical Sciences Journal of Integrated Maternal and Pediatric Care 2645-4068 6 2 2024 06 01 Investigation of the Frequency of IL27 Gene -964 A>G Polymorphism (rs153109) in Infants with a History of Heart Wall Defects in Yazd 67 74 362 10.18502/wjpn.v6i2.15487 EN Mohadeseh Zare Dr. Mazaheri’s Medical Genetics Lab, Yazd, Iran Department of Biological Sciences, Faculty of Engineering and Science, Science and Arts University, Yazd, Iran Amaneh Javid Department of Biological Sciences, Faculty of Engineering and Science, Science and Arts University, Yazd, Iran Mahdiyeh Yavari Dr. Mazaheri’s Medical Genetics Lab, Yazd, Iran Mahta Mazaheri Dr. Mazaheri’s Medical Genetics Lab, Yazd, Iran Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran Journal Article 2024 06 02 <strong>Background:</strong> 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 <em>IL27</em> gene in infants with CHD in Yazd province, Iran.<br /><strong>Methods:</strong> The study included 30 infants with CHD. We genotyped the <em>IL27 </em>polymorphism by using the PCR- Sequencing technique.<br /><strong>Results: </strong>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.<br /><strong>Conclusion:</strong> 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. https://wjpn.ssu.ac.ir/article_362_a33f335acd8229c129317e8fa9394030.pdf