Shi Yue, Kim Hyung Jun, Kim Seong Yong, Kim Ga Eun, Jin Han Jun
Department of Biological Sciences, College of Science & Technology, Dankook University, Cheonan 31116, Korea.
Genomics Inform. 2023 Sep;21(3):e29. doi: 10.5808/gi.22064. Epub 2023 Sep 27.
Preterm birth (PTB), a pregnancy-related disease, is defined as a birth before 37 weeks of gestation. It is a major cause of maternal mortality and morbidity worldwide, and its incidence rate is steadily increasing. Various genetic factors can contribute to the etiology of PTB. Vascular endothelial growth factor A (VEGFA) gene is an important angiogenic gene and its polymorphisms have been reported to be associated with PTB development. Therefore, we conducted a case-control study to evaluate the association between VEGFA rs699947, rs2010963, and rs3025039 polymorphisms and PTB in Korean women. A total of 271 subjects (116 patients with PTB and 155 women at ≥38 weeks of gestation) were analyzed in this study. The genotyping of VEGFA gene polymorphisms was performed using polymerase chain reaction- restriction fragment length polymorphism. No significant association between the patients with PTB and the control groups was confirmed. In the combination analysis, we found a significant association between PTB and VEGFA rs699947 CC-rs2010963 GG-rs3025039 CC combination (odds ratio, 3.77; 95% confidence interval, 1.091 to 13.032; p = 0.031). The VEGFA rs699947, rs2010963, and rs3025039 polymorphisms might have no genetic association with the pathogenesis of PTB in Korean women. However, the combination analysis indicates the possibility that VEGFA acts in PTB pathophysiology. Therefore, larger sample sets and replication studies are required to further elucidate our findings.
早产（PTB）是一种与妊娠相关的疾病，定义为妊娠37周前分娩。它是全球孕产妇死亡和发病的主要原因，且发病率正在稳步上升。多种遗传因素可导致早产的病因。血管内皮生长因子A（VEGFA）基因是一种重要的血管生成基因，其多态性已被报道与早产的发生有关。因此，我们进行了一项病例对照研究，以评估VEGFA rs699947、rs2010963和rs3025039多态性与韩国女性早产之间的关联。本研究共分析了271名受试者（116例早产患者和155名妊娠≥38周的女性）。使用聚合酶链反应-限制性片段长度多态性对VEGFA基因多态性进行基因分型。未证实早产患者与对照组之间存在显著关联。在联合分析中，我们发现早产与VEGFA rs699947 CC-rs2010963 GG-rs3025039 CC组合之间存在显著关联（比值比，3.77；95%置信区间，1.091至13.032；p = 0.031）。VEGFA rs699947、rs2010963和rs3025039多态性可能与韩国女性早产的发病机制无遗传关联。然而，联合分析表明VEGFA在早产病理生理学中起作用的可能性。因此，需要更大的样本集和重复研究来进一步阐明我们的发现。
