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

Cited 29 time in Web of Science Cited 28 time in Scopus
Authors
Lee, Gyoung Hoon; Choi, Young Min; Kim, Sung Hoon; Hong, Min A; Oh, Sung Tack; Lim, Young Taik; Moon, Shin Yong
Issue Date
2008-02-15
Publisher
Oxford University Press
Citation
Hum Reprod. 2008;23(4):977-981
Keywords
AdultCase-Control StudiesEndometriosis/*geneticsFemaleHaplotypesHumansKoreaMiddle AgedPolymorphism, Restriction Fragment Length*Polymorphism, Single NucleotideRisk FactorsSeverity of Illness IndexTumor Necrosis Factor-alpha/*genetics
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.
ISSN
1460-2350 (Electronic)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18272527

http://humrep.oxfordjournals.org/cgi/reprint/23/4/977.pdf

http://hdl.handle.net/10371/68073
DOI
https://doi.org/10.1093/humrep/den016
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College of Medicine/School of Medicine (의과대학/대학원)Obstetrics & Gynecology (산부인과전공)Journal Papers (저널논문_산부인과학전공)
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