Results
| PMID | 21251749 |
| Gene Name | IGF2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IGF-I (-969(CA) block, -603A>T, and -553T>C), IGF-II (c.517C>T, c.540G>T and 820G>A), IGF-IR (c.3129G>A) |
| Population size | 236 |
| Population details | 236 (128 women with endometriosis, 108 control women) |
| Sex | Female |
| Associated genes | IGF-I, IGF-II, IGF-IR |
| Other associated phenotypes |
Endometriosis |
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Eur J Obstet Gynecol Reprod Biol. 2011 May;156(1):87-90. doi: Kim, Hoon| Park, Ju Hee| Ku, Seung-Yup| Kim, Seok Hyun| Choi, Young Min| Kim, Jung Gu Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, 28 Yungun-Dong, Chongno-Ku, Seoul 110-744, Republic of Korea. OBJECTIVES: To evaluate the relationship between endometriosis and polymorphisms in insulin-like growth factors (IGFs) and IGF-I receptor genes. STUDY DESIGN: In a case-control study, 128 women with endometriosis and 108 control women were recruited at the Department of Obstetrics and Gynecology in Seoul National University Hospital. Determinations of -969(CA) block, -603A>T, and -553T>C single nucleotide polymorphism (SNP)s in the IGF-I gene, c.517C>T, c.540G>T and 820G>A SNPs in the IGF-II gene, and c.3129G>A SNP in the IGF-I receptor gene were performed to evaluate the prevalence of IGFs and IGF-I receptor genotypes or alleles. RESULTS: Among studied SNPs, the IGF-II 820G>A polymorphism was associated with endometriosis. Women with endometriosis were observed 1.99 times more frequently in the GG genotype of the IGF-II 820G>A polymorphism compared with non-GG genotype (95% confidence level: 1.18-3.35). The similar finding was observed only in early stage endometriosis (stages I and II). CONCLUSIONS: The IGF-II 820G>A polymorphism is a genetic factor which may be associated with the development of endometriosis in Korean women. Mesh Terms: 3' Untranslated Regions| Adult| Case-Control Studies| Endometriosis/*genetics/pathology| Female| Gene Frequency| Genetic Association Studies| Hospitals, University| Humans| Insulin-Like Growth Factor I/*genetics| Insulin-Like Growth Factor II/*g |
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