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Mitochondria DNA polymorphisms are associated with susceptibility to endometriosis.

Authors
 SiHyun Cho  ;  Young-Mock Lee  ;  Young Sik Choi  ;  Hyo In Yang  ;  Young Eun Jeon  ;  Kyung Eun Lee  ;  KyungJin Lim  ;  Hye Yeon Kim  ;  Seok Kyo Seo  ;  Byung Seok Lee 
Citation
 DNA AND CELL BIOLOGY, Vol.31(3) : 317-322, 2012 
Journal Title
 DNA AND CELL BIOLOGY 
ISSN
 1044-5498 
Issue Date
2012
MeSH
Adult ; DNA, Mitochondrial/genetics* ; Endometriosis/genetics* ; Endometriosis/pathology ; Female ; Genetic Predisposition to Disease* ; Humans ; Neoplasm Staging ; Oxidative Stress ; Polymorphism, Single Nucleotide* ; Reactive Oxygen Species/metabolism
Keywords
Adult ; DNA, Mitochondrial/genetics* ; Endometriosis/genetics* ; Endometriosis/pathology ; Female ; Genetic Predisposition to Disease* ; Humans ; Neoplasm Staging ; Oxidative Stress ; Polymorphism, Single Nucleotide* ; Reactive Oxygen Species/metabolism
Abstract
Because energy production involves oxidative phosphorylation, mitochondria are major sources of reactive oxygen species in the cell. Recent findings indicate that mitochondrial DNA (mtDNA) variants may play a role in the etiology of certain autoimmune and chronic inflammatory diseases. The aim of this study was to investigate the possible association between mtDNA polymorphisms and susceptibility to endometriosis. This study included 198 patients with histologically confirmed endometriosis and 167 patients without endometriosis as controls. Common variants of mtDNA at nt10398 (A/G transition), nt13708 (G/A transition), and nt16189 (T/C transition) were detected using polymerase chain reaction. An association study was performed with a chi-square test and logistic regression analysis. The prevalence of the mtDNA nt16189 variant was higher in patients with endometriosis (46.0%, 91 of 198) than in controls (34.7%, 58 of 167) (p=0.030) with odds ratio (OR) of 1.98 (95% confidence interval [CI]: 1.04-3.78). A combination of the 10398 and 16189 variants was also associated with increased risk for endometriosis (OR=1.90, 95% CI: 1.13-3.18, p=0.015). These associations remained significant even after adjusting for age and body mass index. Our data strongly suggest that the mtDNA 16189 variants and the combination of mtDNA 16189 and 10398 variants increase susceptibility to endometriosis
Full Text
http://online.liebertpub.com/doi/abs/10.1089/dna.2011.1279
DOI
21848429
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hye Yeon(김혜연)
Seo, Seok Kyo(서석교) ORCID logo https://orcid.org/0000-0003-3404-0484
Yang, Hyo In(양효인)
Lee, Kyung Eun(이경은)
Lee, Byung Seok(이병석) ORCID logo https://orcid.org/0000-0001-6001-2079
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lim, Kyung Jin(임경진)
Jeon, Young Eun(전영은)
Cho, Si Hyun(조시현) ORCID logo https://orcid.org/0000-0003-2718-6645
Choi, Young Sik(최영식) ORCID logo https://orcid.org/0000-0002-1157-4822
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90155
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