Mashayekhi Farhad, Yousefi Mostafa, Salehi Zivar, Pournourali Mostafa
a Department of Biology, Faculty of Sciences , University of Guilan , Rasht , Iran.
J Obstet Gynaecol. 2016 May;36(4):544-7. doi: 10.3109/01443615.2015.1127903. Epub 2016 Jan 20.
Despite enormous progress in the understanding of human reproductive physiology, the underlying cause of male infertility remains undefined in about 50.0% of cases, which are referred to as idiopathic infertility. Human apurinic/apyrimidinic endonuclease 1 (ApE1) is a multifunctional protein that has an important role in the base excision repair pathway. The present study aimed to evaluate whether two functional ApE1 polymorphisms (-656T > G and 1349T > G) are associated with the susceptibility of female infertility. Blood samples were collected from 100 patients diagnosed with female infertility and 100 control subjects and genotyped by tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR). The results indicated that individuals with the variant TG genotypes had a significantly increased risk of female infertility (p = 0.035, OR = 1.98, 95% CI = 1.04-3.74). Whereas, a significant association between 1349T > G polymorphism and female infertility risk was not observed (p = 0.1). Larger studies with more patients and controls are required to confirm the results.
尽管在人类生殖生理学的理解方面取得了巨大进展，但在大约50.0%的病例中，男性不育的根本原因仍不明确，这些病例被称为特发性不育。人脱嘌呤/脱嘧啶内切酶1（ApE1）是一种多功能蛋白质，在碱基切除修复途径中起重要作用。本研究旨在评估两种功能性ApE1多态性（-656T＞G和1349T＞G）是否与女性不育易感性相关。从100例诊断为女性不育的患者和100例对照受试者中采集血样，并通过四引物扩增不应性突变系统PCR（T-ARMS-PCR）进行基因分型。结果表明，具有变异TG基因型的个体患女性不育的风险显著增加（p = 0.035，OR = 1.98，95%CI = 1.04 - 3.74）。然而，未观察到1349T＞G多态性与女性不育风险之间存在显著关联（p = 0.1）。需要更多患者和对照的更大规模研究来证实这些结果。
