Lack of association between the VEGFA gene polymorphisms and preterm birth in Korean women.

Genomics & informatics Pub Date : 2023-09-01 Epub Date: 2023-09-27 DOI:10.5808/gi.22064
Yue Shi, Hyung Jun Kim, Seong Yong Kim, Ga Eun Kim, Han Jun Jin
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Abstract

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.

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韩国妇女VEGFA基因多态性与早产之间缺乏相关性。
早产(PTB)是一种与妊娠相关的疾病,定义为妊娠37周前的分娩。它是全世界孕产妇死亡率和发病率的主要原因,发病率正在稳步上升。多种遗传因素可导致PTB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PTB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PTB之间的关系。本研究共分析了271名受试者(116名PTB患者和155名妊娠期≥38周的女性)。应用聚合酶链式反应-限制性片段长度多态性进行VEGFA基因多态性的分型。PTB患者和对照组之间没有明显的相关性。在组合分析中,我们发现PTB和VEGFA rs699947 CC-rs2010963 GG-rs3025039 CC组合之间存在显著相关性(比值比,3.77;95%置信区间,1.091至13.032;p=0.031)。VEGFA rs695947、rs2010963和rs3025039多态性可能与韩国女性PTB的发病机制没有遗传相关性。然而,联合分析表明VEGFA可能参与PTB的病理生理学。因此,需要更大的样本集和复制研究来进一步阐明我们的发现。
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