Lee Eun Jo, Han Sung Ho, Kang Yun Dan, Kim Jong Soo, Park Jin Wan, Jin Han Jun
Department of Biological Sciences, College of Bio Convergence, Dankook University, Cheonan, 330-714, South Korea.
Department of Obstetrics and Gynecology, Dankook University Hospital, Cheonan, South Korea.
Mol Biol Rep. 2025 May 22;52(1):488. doi: 10.1007/s11033-025-10594-0.
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.
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 = 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 = 0.018).
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.
早产（PTB）被定义为妊娠37周前分娩。韩国的早产发生率正在稳步上升。早产是一种受遗传和环境因素（如压力、母亲年龄）影响的复杂疾病。据报道，孕期压力水平升高会增加皮质醇浓度，而皮质醇是已知的早产风险因素。最近的研究发现早产与SKA2基因之间存在关联，该基因在调节应激反应和皮质醇水平中起作用。特别是，据报道SKA2 rs7208505多态性与早产风险和皮质醇浓度升高有关。我们对韩国女性进行了SKA2 rs7208505多态性与早产之间的基因关联研究。
在本研究中，我们进行了一项病例对照研究，包括116例早产患者和160例对照。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）确定基因型。在早产患者和对照组之间观察到总体基因型分布存在显著差异（p = 0.011）。我们还发现SKA2 rs7208505 G/A基因型增加了早产风险（OR = 1.94；95% CI，1.104 - 3.220；p = 0.042）。此外，超显性模型分析证实G/A基因型与早产风险增加有关（OR = 2.07；95% CI，1.274 - 3.366；p = 0.018）。
我们的研究结果表明，SKA2 rs7208505多态性与韩国女性早产风险增加有关。有必要在更大的队列中进行进一步的重复研究，并对遗传标记进行额外分析以验证这些发现。
