Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Raebareli Road, Lucknow 226014, UP, India.
Reprod Biomed Online. 2011 Jul;23(1):124-31. doi: 10.1016/j.rbmo.2011.03.022. Epub 2011 Apr 1.
This study investigated the association of common polymorphisms of the endothelial nitric oxide synthase (eNOS) gene with recurrent miscarriage (RM) among North Indian women. A total of 200 patients with unexplained recurrent miscarriages and 300 controls were genotyped for six polymorphic regions of eNOS by PCR, re-sequencing and RFLP. The GG genotype of 12862A>G, the G allele of Glu298Asp and the aa genotype of intron 4VNTR increased the risk of RM by ∼1.8-fold, ∼3.5-fold and ∼2-fold, respectively (odds ratio (OR) 1.84, 95% confidence intervals (CI) 1.19-2.86, P=0.0066; OR 3.58, 95% CI 2.12-6.03, P<0.0001; and OR 2.23, 95% CI 1.04-4.77, P=0.0493). Two haplotypes were found to have a significant protective effect against RM (OR 0.63, 95% CI 0.48-0.82, P=0.0009; and OR 0.4, 95% CI 0.19-0.81, P=0.0149) and another was found to increase the risk of RM by ∼2-fold (OR 2.12, 95% CI 1.16-3.89 P=0.0195). In conclusion three common polymorphisms of eNOS gene, 12862A>G, Glu298Asp and intron 4VNTR increase the risk of RM in North Indian women. Risk of RM may also be modified by the presence of particular haplotypes.
本研究旨在探讨内皮型一氧化氮合酶（eNOS）基因常见多态性与北印度女性复发性流产（RM）之间的关联。通过 PCR、重测序和 RFLP，对 200 例不明原因复发性流产患者和 300 例对照者的 eNOS 基因的 6 个多态性区域进行了基因型分析。12862A>G 的 GG 基因型、Glu298Asp 的 G 等位基因和内含子 4VNTR 的 aa 基因型分别使 RM 的风险增加了约 1.8 倍、3.5 倍和 2 倍（比值比（OR）1.84，95%置信区间（CI）1.19-2.86，P=0.0066；OR 3.58，95%CI 2.12-6.03，P<0.0001；OR 2.23，95%CI 1.04-4.77，P=0.0493）。发现两种单倍型对 RM 有显著的保护作用（OR 0.63，95%CI 0.48-0.82，P=0.0009；OR 0.4，95%CI 0.19-0.81，P=0.0149），而另一种单倍型使 RM 的风险增加了约 2 倍（OR 2.12，95%CI 1.16-3.89，P=0.0195）。总之，eNOS 基因的三个常见多态性，12862A>G、Glu298Asp 和内含子 4VNTR，增加了北印度女性发生 RM 的风险。RM 的风险也可能受到特定单倍型的影响。
