Genetic association between SKA2 rs7208505 and preterm birth in Korean women.

Background: Preterm birth (PTB) is defined as delivery before 37 weeks of gestation. The incidence of PTB in Korea is steadily increasing. PTB is a complex disorder influenced by genetic and environmental factors such as stress, maternal age. Elevated stress levels during pregnancy have been reported to increase cortisol concentrations, a known risk factor for PTB. Recent studies have found an association between PTB and the SKA2 gene, which plays a role in regulating stress response and cortisol levels. In particular, the SKA2 rs7208505 polymorphism has been reported to be associated with PTB risk and elevated cortisol concentrations. We conducted a genetic association study between the SKA2 rs7208505 polymorphism and PTB in Korean women.

Methods and results: In this study, we conducted a case-control study including 116 PTB patients and 160 controls. Genotypes were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). A significant difference in overall genotype distribution was observed between the patients with PTB and control groups (p = 0.011). We also found that the SKA2 rs7208505 G/A genotype increased the risk of PTB (OR = 1.94; 95% CI, 1.104-3.220; p_adj = 0.042). In addition, overdominant model analysis confirmed that the G/A genotype was associated with an increased risk of PTB (OR = 2.07; 95% CI, 1.274-3.366; p_adj = 0.018).

Conclusion: Our findings suggest that the SKA2 rs7208505 polymorphism is associated with an increased risk of PTB in Korean women. Further replication studies in larger cohorts and additional analyses of genetic markers are warranted to validate these findings.