Results
| PMID | 15212671 |
| Gene Name | TNF |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TNFA (polymorphisms at positions -1031, -863, -857, HLA-B*0702 ) |
| Population size | 288 |
| Population details | 288 (123 patients with endometriosis, 165 fertile healthy women ) |
| Sex | Female |
| Associated genes | TNFA, TNFR2 |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2004 May;51(5):352-7. Teramoto, Mariko| Kitawaki, Jo| Koshiba, Hisato| Kitaoka, Yui| Obayashi, Hiroshi| Hasegawa, Goji| Nakamura, Naoto| Yoshikawa, Toshikazu| Matsushita, Masaki| Maruya, Etsuko| Saji, Hiroh| Ohta, Mitsuhiro| Honjo, Hideo Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan. PROBLEM: Tumor necrosis factor (TNF)-alpha is a major cytokine involved in inflammatory and immune function. The aim of this study was to investigate whether polymorphisms at positions -1031, -863 and -857 in the TNF gene promoter region (TNFA) and TNF receptor type 2 gene (TNFR2) are responsible in part for genetic susceptibility to endometriosis. METHODS OF STUDY: TNFA and TNFR2 polymorphisms were determined in 123 patients with endometriosis and 165 fertile healthy women by the polymerase chain reaction (PCR) - preferential homoduplex formation assay and PCR-restriction fragment length polymorphism, respectively. RESULTS: The frequency of the TNFA-U01 haplotype was increased significantly in patients with endometriosis compared with controls (P = 0.045, OR = 1.45). The TNFA-U01 haplotype was strongly associated with HLA-B*0702. No difference was found in TNFR2 polymorphism between patients and controls. CONCLUSION: Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms. Mesh Terms: Adult| Antigens, CD/*genetics| Case-Control Studies| DNA/genetics/isolation & purification| Data Interpretation, Statistical| Endometriosis/classification/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease/genetics| Genotype| H |
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