Results
| PMID | 19531501 |
| Gene Name | NOS2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | NOS3 (E298D) |
| Population size | 758 |
| Population details | 758 (299 women with advanced stage endometriosis, 459 control women without endometriosis) |
| Sex | Female |
| Associated genes | NOS |
| Other associated phenotypes |
Endometriosis |
|
Hum Reprod. 2009 Oct;24(10):2656-9. doi: 10.1093/humrep/dep212. Epub 2009 Jun 16. Kim, Hoon| Ku, Seung Yup| Kim, Sung Hoon| Lee, Gyoung Hoon| Choi, Young Min| Kim, Jong Mee| Lee, Taek Hoo| Moon, Shin Yong Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 28 Yungun-dong, Chongno-ku, Seoul 110-744, South Korea. BACKGROUND: Altered expression of endothelial nitric oxide synthase (eNOS) has been reported to be involved in the development of endometriosis. The genotypes of eNOS gene (NOS3) may be responsible for variation in its enzymatic activity as well as plasma concentration of nitric oxide. The Glu298Asp polymorphism of the NOS3 may modulate angiogenesis and influence individual susceptibility to endometriosis. This study was designed to evaluate the association between the Glu298Asp polymorphism of the NOS3 and advanced stage endometriosis. METHODS: This study consisted of 299 women with advanced stage endometriosis and 459 control women without endometriosis in a Korean population. Genotyping results of the Glu298Asp polymorphism of the NOS3 were analyzed between the endometriosis and control group. RESULTS: The genotypic frequencies were significantly different between women with and without endometriosis. The frequency of the non-GG genotype (GT + TT) was higher in the endometriosis group than in the control group (P = 0.001). CONCLUSION: These findings suggest that the T allele, encoding aspartic acid, of the Glu298Asp polymorphism of the NOS3 may be associated with advanced stage endometriosis in the Korean population. Mesh Terms: Adult| *Amino Acid Substitution| Endometriosis/*genetics| Female| Gene Frequency| Genotype| Humans| Korea| Middle Aged| Nitric Oxide Synthase Type III/*genetics| *Polymorphism, Genetic|DA 2009/12/16 06:00 |
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