Background: One of the most prevalent congenital deformities in infants is congenital heart disease (CHD) that has high rates of morbidity and mortality. To enhance patient clinical outcomes, it is vital to investigate CHD pathophysiology. Cardiovascular illness has been linked to TGF-1 signaling disruptions.
Aim of the Study: The forecasting of CHD susceptibility in the Egyptian population is our aim.
Patients and methods: This case-control study was conducted at the Pediatric Cardiology Unit at the Zagazig Children Hospital, Faculty of Medicine, Zagazig University, with 60 CHD patients and 60 healthy controls of similar age and sex. Single nucleotide polymorphisms (SNPs) that are genotyped include: The TGFB1 rs1800471 and rs1982073 analysis were carried out using restriction fragment length polymorphism (RFLP PCR).
Results: The CT and TT genotypes of rs1982073 were significantly more prevalent in the CHD group compared to controls. The C allele was only identified in 65 (54%) of the CHD cases and the T allele in 55 (46%) of them, whereas the C allele was present in 94 (78%) of the control participants and the T allele in 26 (22%) of them. There was a significant difference between CHD cases and controls in terms of the T allele of rs1982073, which was higher in CHD cases compared to controls.
Conclusion: The current study shows a link between the TGFB1 gene variant rs1982073 and the incidence of congenital cardiac disease in Egyptian communities.