Bhanoori Manjula, Kameshwari D B, Zondervan K T, Deenadayal Mamata, Kennedy Stephen, Shivaji S
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad 500007, India.
Eur J Obstet Gynecol Reprod Biol. 2008 Jul;139(1):53-8. doi: 10.1016/j.ejogrb.2008.01.006. Epub 2008 Mar 7.
To investigate whether the eNOS gene influences the risk of developing endometriosis in south Indian women.
The single nucleotide polymorphism, Glu298Asp, in exon7 of the eNOS gene was tested for association in a case-control study of 232 affected women and 210 women with no evidence of disease. All the women were infertile, ascertained from the same infertility clinic. The genotype frequencies of the polymorphism were compared, using polymerase chain reaction and sequencing analysis. The localization and expression of eNOS in the eutopic endometrium of five cases and four controls was also analyzed using immunohistochemistry and western blotting.
No statistically significant differences were observed in the genotype distributions and allele frequencies (p=0.3) between the cases and controls according to codominant, dominant and recessive genotype models. The localization and expression of this protein were similar in the endometrium of cases and controls.
In the present study we could neither observe a difference in the eNOS expression nor establish an association between the eNOS Glu298Asp exon 7 polymorphism in south Indian women with endometriosis.
研究内皮型一氧化氮合酶（eNOS）基因是否影响印度南部女性患子宫内膜异位症的风险。
在一项病例对照研究中，对232例患病女性和210例无疾病证据的女性进行eNOS基因第7外显子单核苷酸多态性Glu298Asp的关联性检测。所有女性均为不育患者，来自同一家不孕不育诊所。采用聚合酶链反应和测序分析比较该多态性的基因型频率。同时，运用免疫组织化学和蛋白质印迹法分析5例病例和4例对照在位内膜中eNOS的定位和表达。
根据共显性、显性和隐性基因型模型，病例组和对照组之间的基因型分布和等位基因频率无统计学显著差异（p = 0.3）。该蛋白在病例组和对照组子宫内膜中的定位和表达相似。
在本研究中，我们既未观察到eNOS表达的差异，也未证实印度南部患子宫内膜异位症女性的eNOS Glu298Asp第7外显子多态性之间存在关联。
