Results
| PMID | 17213269 |
| Gene Name | STAT6 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | STAT6 (G2964A 3'-UTR polymorphism) |
| Population size | 442 |
| Population details | 442 (232 affected women, 210 control women) |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | STAT6 |
| Other associated phenotypes |
Endometriosis, Infertility |
|
Hum Reprod. 2007 Apr;22(4):1026-30. Epub 2007 Jan 9. Bhanoori, Manjula| Deenadayal, Mamata| Kennedy, Stephen| Shivaji, Sisinthy Centre for Cellular and Molecular Biology, Hyderabad, Andhra Pradesh, India. BACKGROUND: The aim of the study was to test whether the signal transducer and activator of transcription 6 (STAT6) gene influences the risk of developing endometriosis. METHODS: The single-nucleotide polymorphism, G2964A, in the 3'-untranslated region (UTR) of the STAT6 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 and of South Indian origin. The genotype frequencies of this polymorphism were compared using PCR and sequencing analysis. RESULTS: There were statistically significant differences in the genotype distributions (P = 0.002) and allele frequencies (P = 0.0002) between the cases and controls, according to codominant, dominant and recessive genotype models. CONCLUSIONS: We report for the first time an association between the STAT6 G2964A 3'-UTR polymorphism and endometriosis in South Indian women. This finding suggests that STAT6 may contribute to disease susceptibility in endometriosis, which carries an extra interest as the gene lies in a region which has been implicated, albeit weakly, in a previous genomewide scan. Mesh Terms: 3' Untranslated Regions| Adult| Alleles| Endometriosis/*genetics| Female| Genetic Predisposition to Disease| Genome| Genotype| Humans| India| Infertility/diagnosis/*genetics| Laparoscopy| Odds Ratio| *Polymorphism, Genetic| STAT6 Transcripti |
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