Results
| PMID | 16144297 |
| Gene Name | TGFB1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 309 |
| Population details | 309 (150 patients with endometriosis, 159 non-endometriosis) |
| Sex | Female |
| Associated genes | TGF-B1 |
| Other associated phenotypes |
Endometriosis |
|
Biochem Genet. 2005 Jun;43(5-6):203-10. Hsieh, Yao-Yuan| Chang, Chi-Chen| Tsai, Fuu-Jen| Peng, Ching-Tien| Yeh, Lian-Shun| Lin, Cheng-Chieh Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan. Transforming growth factor beta (TGF-B) family members are multi-functional cytokines that play a key role in cellular growth, proliferation, and differentiation. The aim of the study was to investigate whether the TGF-B1-509 gene polymorphism could be used as a marker of susceptibility in endometriosis. Women were divided into two groups: endometriosis (n = 150) and non-endometriosis (n = 159). Polymorphisms for TGF-B 1-509 genes were amplified by polymerase chain reaction and detected after restriction enzyme digestion. Genotypes and allelic frequencies in both groups were compared. Genotype proportions and allele frequencies of TGF-B1 gene polymorphisms differed significantly in both groups. Proportions of C homozygote, heterozygote, and T homozygote for TGF-B1 gene polymorphisms were 9.3/61.3/29.4% in the endometriosis group and 41.3158.510% in the non-endometriosis group. Alleles C and T for TGF-B1 gene polymorphism were 40/60% (endometriosis) and 70.8/29.2% (non-endometriosis). Association of endometriosis with TGF-B 1-509 gene polymorphism exists. T homozygote and T allele for TGF-B1 are associated with higher susceptibility to endometriosis. Mesh Terms: Deoxyribonucleases, Type II Site-Specific/metabolism| Endometriosis/*genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Humans| *Polymorphism, Genetic| Premenopause| Transforming Growth Factor beta/*genetics| Transfo |
|