Association of the SOD2 Rs5746136 C>T Polymorphisms with The Risk of Persistent Pulmonary Hypertension of The Newborn

Abstract

Background: Persistent pulmonary hypertension of a newborn (PPHN) is a serious condition with a high morbidity and mortality rate, with a complex therapeutic approach. Recently, genetic associations have been found in patients with PPHN, the role of some polymorphisms that explain its pathogenesis has not been well defined. Objective: To determine the frequency of association of SOD2 gene polymorphisms (rs5746136 C>T) in PPHN in the Mexican population. Methods: We included 155 Mexican infants; 76 with PPHN, confirmed by echocardiography (study group), and 79 healthy newborns (control group) and by polymerase chain reaction (PCR) and RFLPs was identified the rs5746136 polymorphism in SOD2 gene. Results: The group with PPHN had a lower gestational age (35.6 ± 2.81 weeks versus 38.1 ± 1.9; P=0.008) and a lower mean body weight (2,622 ± 626 g versus 2,992 ± 565 g, P=0.052) than the controls respectively. The rs5746136 C>T polymorphism was associated with PPHN susceptibility, when PPHN patients and the control group were compared for the TT genotype (OR 8.1, 95%CI 2.65-24.9; P=0.0001), the CT/TT genotype (OR 6.5, 95% CI 3.12-13.5; P=0.0001), and the T allele (OR 4.3, 95% CI 2.63-7.02; P=0.0001). Conclusion: We found significant differences in the association of rs5746136 C>T polymorphism of SOD2 gene in PPHN of the Mexican population analyzed.