Association of tumor necrosis factor-  gene polymorphisms with advanced stage endometriosis

Lee GH, Gyoung Hoon Lee, Choi YM, Young Min Choi, Y. M. Choi, Sung Hoon Kim, Min Hong, Hong Ma, Min A Hong, Oh ST, Sooyeon Oh, Sung Tack Oh, Young Tak Lim, Lim YT, Young Taik Lim, Shin Yong Moon, Moon SY, S.Y. Moon
Human Reproduction · 2008 · vol. 23(4) , pp. 977–981 · doi:10.1093/humrep/den016 · PMID:18272527 · W2152288565
article OA: bronze CC0 ⤵ 24 in-corpus citations
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This study found that the TNF:g.[-1031T > C] polymorphism was significantly associated with advanced stage endometriosis, while TNF:g.[-863C > A] and TNF:g.[-857C > T] were not.

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Abstract

BACKGROUND: This study was performed to investigate whether specific haplotypes and several single nucleotide polymorphisms in the promoter region of the tumor necrosis factor (TNF)-alpha gene are associated with the risk of advanced stage endometriosis in a Korean population. METHODS: This study comprised women with (n = 246) or without (n = 248) endometriosis. The TNF:g.[-1031T > C], TNF:g.[-863C > A] and TNF:g.[-857C > T] polymorphism in the TNF-alpha gene were assessed by PCR-restriction fragment length polymorphism analysis, which utilized digestion by BbsI, HypCH4IV and HypCH4IV restriction enzymes, respectively. In silico haplotypes were deduced by using the Haploview version 3.32. RESULTS: The genotype distribution of TNF:g.[-1031T > C] was significantly different between total endometriosis patients and the controls (T/T of 56.9 versus 60.1%, T/C of 35.4 versus 37.5% and C/C of 7.7 versus 2.4%, respectively, P = 0.027). This difference at the TNF:g.[-1031T > C] tends to increase in Stage IV endometriosis (P = 0.01). However, there was no difference in the TNF:g.[-863C > A] and TNF:g.[-857C > T] site between the two groups. Even when the endometriosis cases were subdivided into American Society for Reproductive Medicine Stages III and IV, genotype differences were not found. The CC homozygote at TNF:g.-863 was more frequently found in the controls than Non-CC group (P = 0.04; odds ratio = 0.67; 95% confidence interval = 0.45-0.98). All haplotypes and diplotypes, deduced by in silico analysis, showed no association with subgroups or controls. CONCLUSIONS: Our results suggest that the genotype frequencies at the TNF:g.[-1031T > C] and the TNF:g.[-863C > A] sites may be associated with advanced stage endometriosis in the Korean population.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Polymorphism, Single Nucleotide Tumor Necrosis Factor-alpha Adult Case-Control Studies Endometriosis Female Haplotypes Humans Korea Middle Aged Polymorphism, Restriction Fragment Length Risk Factors Severity of Illness Index Tumor Necrosis Factor-alpha

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References (31)

Cited by (24)

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