Zammiti Walid, Mtiraoui Nabil, Mahjoub Touhami
Research Unit of Biology and Genetics of Cancer, Haematological and Autoimmune Diseases, Faculty of Pharmacy of Monastir, Monastir University, Monastir, Tunisia.
Am J Reprod Immunol. 2008 Feb;59(2):139-45. doi: 10.1111/j.1600-0897.2007.00551.x.
Polymorphisms of the endothelial nitric oxide synthase (eNOS) gene have been associated with reduced vascular NO production or increased level of homocysteine, and evaluated as risk factors for recurrent pregnancy loss (RPL). Therefore, in this case-control study, we aimed to determine the effects of some eNOS functional polymorphisms: the 27-bp intron 4 repeat, the 894G/T of exon 7, and the promoter substitution -786T/C, in women with RPL.
We genotyped 350 patients with RPL and 200 healthy women by polymerase chain reaction (PCR) and restriction fragment length polymorphism-PCR (RFLP-PCR). The homocysteine total plasma concentrations (tHcy) were determined by enzyme-linked immunosorbent assay (ELISA).
None of the eNOS polymorphisms-related alleles, genotypes, and haplotypes were associated with RPL. The tHcy were similar between patients and controls; no significant association between tHcy levels and eNOS genotypes could be evidenced.
The present study identified a lack of association between eNOS gene polymorphisms, the risk of RPL and tHcy levels.
内皮型一氧化氮合酶（eNOS）基因多态性与血管一氧化氮生成减少或同型半胱氨酸水平升高有关，并被评估为复发性流产（RPL）的危险因素。因此，在这项病例对照研究中，我们旨在确定一些eNOS功能多态性：内含子4的27-bp重复序列、外显子7的894G/T以及启动子替换-786T/C对RPL女性的影响。
我们通过聚合酶链反应（PCR）和限制性片段长度多态性-PCR（RFLP-PCR）对350例RPL患者和200名健康女性进行基因分型。采用酶联免疫吸附测定法（ELISA）测定血浆总同型半胱氨酸浓度（tHcy）。
eNOS多态性相关的等位基因、基因型和单倍型均与RPL无关。患者和对照组的tHcy相似；未发现tHcy水平与eNOS基因型之间存在显著关联。
本研究发现eNOS基因多态性、RPL风险和tHcy水平之间缺乏关联。
