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Keywords:

  • Endometriosis;
  • HLA-class I;
  • TNF gene polymorphisms;
  • TNF receptor gene polymorphisms;
  • TNF-α

Problem:  Tumor necrosis factor (TNF)-α 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.