Results
| PMID | 21623988 |
| Gene Name | TGFB1 |
| Condition | Endometriosis |
| Association |
Associated |
| PMID | 21623988 |
| Gene Name | TGFB1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TGFB1-509C/T and 868T/C |
| Population size | 238 |
| Population details | 238 (131 woman with endometriosis, 107 without endometriosis ) |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2011 Nov;66(5):428-34. doi: Lee, Hye Jun| Kim, Hoon| Ku, Seung-Yup| Kim, Seok Hyun| Kim, Jung Gu Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Korea. PROBLEM: To investigate the association between endometriosis, transforming growth factor-beta1 (TGFB1) gene polymorphisms, and serum TGF-beta1 levels in Korean women. METHOD OF STUDY: The -509C/T, 868T/C, 913G/C and 979G/A polymorphisms of the TGFB1 gene were analyzed in women with (n = 131) and without (n = 107) endometriosis using restriction fragment length polymorphism (RFLP) analysis. Serum TGF-beta1 levels were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: The 913G/C and 979G/A polymorphisms were not observed in the study participants. The genotype and allele distribution of the -509C/T and 868T/C polymorphisms in endometriosis were similar to those in controls. However, the -509T/868C (TC) haplotype allele was observed 4.55 times more frequently in early-stage endometriosis than in other haplotype alleles. Serum TGF-beta1 levels were significantly higher in endometriosis than in controls. The single and haplotype genotype of -509C/T and 868T/C polymorphisms were not related with serum TGF-beta1 levels. CONCLUSION: The TC haplotype allele of TGFB1-509C/T and 868T/C polymorphisms may be associated with early-stage endometriosis in Korean women. Mesh Terms: Adult| Asian Continental Ancestry Group/*genetics| Endometriosis/diagnosis/*ethnology/*genetics| Female| *Genetic Predisposition to Disease| Haplotypes| Humans| Polymorphism, Genetic/*genetics| Polymorphism, Restriction Fragment Length| Republic |
|