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ORIGINAL ARTICLE: Tumor Necrosis Factor (TNF)–TNF Receptor Gene Polymorphisms and Their Serum Levels in Korean Women with Endometriosis


  • Present address: Department of Obstetrics & Gynecology, Seoul National University, College of Medicine, 28 Yeungun-dong Chongno-Ku, Seoul 110-744, Korea.

Jung Gu Kim, Department of Obstetrics & Gynecology, Seoul National University Hospital, 28 Yeungun-dong Chongno-Ku, Seoul 110-744, Korea.


Problem  The aim of this study was to investigate the relationship between the polymorphisms of the tumor necrosis factor-α (TNF-α) and TNF receptor (TNFR) genes and serum levels of TNF-α and its soluble receptor (sTNFR) in Korean women with endometriosis.

Method of study  The TNF-α 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-α, sTNFR1, and sTNFR2 were analyzed in women with (= 105) and without endometriosis (= 101).

Results  Serum sTNFR1 and sTNFR2 levels were significantly higher in women with endometriosis than in those without endometriosis, whereas no difference in serum TNF-α level was noted. Single polymorphisms of TNF-α and TNFR genes were not significantly different between the two groups. The frequencies of the TNF-α 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 TNF-α and TNFR2 gene polymorphisms are genetic factors associated with endometriosis, and circulating sTNFR rather than TNF-α, may be involved in the development of endometriosis in Korean women.

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