Kydonopoulou K, Delkos D, Rousso D, Ilonidis G, Mandala E
Fourth Department of Internal Medicine, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece.
Third Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece.
Hippokratia. 2017 Oct-Dec;21(4):180-185.
Infertility is a major issue of concern for couples at reproductive age. The underlying causes of infertility remain unknown in 15-30 % of the cases. Plasminogen activator inhibitor type 1 (PAI-1), which is a major fibrinolytic factor, has been associated with increased infertility risk. DNA variants at such as -675 4G/5G promoter polymorphism, have been implicated in infertility-related reproductive disorders, possibly due to a molecular mechanism involving implantation failure. This study aims to investigate the association of 4G/5G polymorphism to otherwise unexplained female infertility in a sample of women of Greek ethnic origins.
We enrolled in this study 222 women from the population of Northern Greece; 115 women with unexplained infertility (group 1) and 107 normal fertile women (group 2). All participants were genotyped for -675 by real-time polymerase chain reaction.
Our results indicate an association with the 4G allele in our sample of women with unexplained infertility. The dominant genetic model supports the association, in contrast to the recessive genetic model.
Our results indicate that 4G/5G polymorphism is a promising screening factor which could potentially be a target for certain cases of unexplained female infertility. However, they should be interpreted with caution and should be validated in larger studies and diverse populations. In addition, other variants in genes involved in thrombophilia might need to be considered. HIPPOKRATIA 2017, 21(4): 180-185.
不孕症是育龄夫妇关注的主要问题。15%-30%的不孕症病例病因不明。纤溶酶原激活物抑制剂1型（PAI-1）是一种主要的纤溶因子，与不孕症风险增加有关。诸如-675 4G/5G启动子多态性等DNA变异与不孕症相关的生殖障碍有关，可能是由于涉及植入失败的分子机制。本研究旨在调查希腊族裔女性样本中4G/5G多态性与不明原因女性不孕症之间的关联。
我们招募了来自希腊北部的222名女性参与本研究；115名不明原因不孕症女性（第1组）和107名正常可育女性（第2组）。通过实时聚合酶链反应对所有参与者进行-675基因分型。
我们的结果表明，在不明原因不孕症女性样本中，4G等位基因存在关联。与隐性遗传模型相比，显性遗传模型支持这种关联。
我们的结果表明，4G/5G多态性是一个有前景的筛查因素，可能是某些不明原因女性不孕症病例的潜在靶点。然而，这些结果应谨慎解释，并应在更大规模的研究和不同人群中进行验证。此外，可能需要考虑血栓形成倾向相关基因的其他变异。《希波克拉底》2017年，21(4): 180 - 185。
