Results
| PMID | 19238748 |
| Gene Name | TNFRSF1B |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TNF-alpha C((-857)T, C(-863)A and T(-1031)C), TNFR1 (A(36)G. TNFR2 T(676)G, A(1663)G, T(1668)G and C(1690)T) |
| Population size | 206 |
| Population details | 206 (105 women with endometriosis, 101 women without endometriosis) |
| Sex | Female |
| Associated genes | TNT-alpha, TNFR2, TNFR |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2008 Nov;60(5):432-9. Chae, Soo Jin| Kim, Hoon| Jee, Byung Chul| Suh, Chang Suk| Kim, Seok Hyun| Kim, Jung Gu Department of Obstetrics and Gynecology, Seoul National University, College of Medicine, Seoul, Korea. PROBLEM: The aim of this study was to investigate the relationship between the polymorphisms of the tumor necrosis factor-alpha (TNT-alpha) and TNF receptor (TNFR) genes and serum levels of TNF-alpha and its soluble receptor (sTNFR) in Korean women with endometriosis. METHOD OF STUDY: The TNF-alpha C(-857)T, C(-863)A and T(-1031)C, and TNFR1 A(36)G. TNFR2 T(676)G, A(1663)G, T(1668)G and C(1690)T polymorphisms, and serum levels of TNF-alpha, sTNFR1, and sTNFR2 were analyzed in women with (n = 105) and without endometriosis (n = 101). RESULTS: Serum sTNFR1 and sTNFR2 levels were significantly higher in women with endometriosis than in those without endometriosis, whereas no difference in serum TNT-alpha level was noted. Single polymorphisms of TNT-alpha and TNFR genes were not significantly different between the two groups. The frequencies of the TNF-alpha T/C/C haplotype allele and the TNFR2 G/G/T haplotype allele were significantly decreased in women with endometriosis compared to women without endometriosis. Women carrying at least one copy of the TNFR2 T/G/T and /or G/G/C haplotype allele had an approximately two times higher risk of endometriosis than women without these haplotype alleles. CONCLUSION: The haplotype alleles of the TNT-alpha and TNFR2 gene polymorphisms are genetic factors associated with endometriosis, and circulating sTNFR rather than TNT-alpha, may be involved in the development of endometriosis in Korean women. Mesh Terms: Adult| Alleles| Endometriosis/*blood/epidemiology/*genetics| Female| Gene Frequency/genetics| Genotype| Haplotypes/genetics| Humans| Korea/epidemiology| Polymorphism, Genetic| Receptors, Tumor Necrosis Factor/*blood/*genetics| Tumor Necrosis Fa |
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