Mitochondria DNA Polymorphisms Are Associated with Susceptibility to Endometriosis

SiHyun Cho, Young‐Mock Lee, 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
DNA and cell biology · 2011 · vol. 31(3) , pp. 317–322 · doi:10.1089/dna.2011.1279 · PMID:21848429 · W2081946590
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Mitochondrial DNA variants at nt16189 and a combination of nt10398 and nt16189 were found to be significantly associated with increased susceptibility to endometriosis in this study.

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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.
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YUHASpace Repository 4 865 Cited 0 times in Cited 31 times in 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 - 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 - 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 (소아과학교실) > 1. Journal Papers - Yonsei Authors - Kim, Hye Yeon(김혜연) Seo, Seok Kyo(서석교) https://orcid.org/0000-0003-3404-0484 Yang, Hyo In(양효인) Lee, Kyung Eun(이경은) Lee, Byung Seok(이병석) https://orcid.org/0000-0001-6001-2079 Lee, Young Mock(이영목) https://orcid.org/0000-0002-5838-249X Lim, Kyung Jin(임경진) Jeon, Young Eun(전영은) Cho, Si Hyun(조시현) https://orcid.org/0000-0003-2718-6645 Choi, Young Sik(최영식) https://orcid.org/0000-0002-1157-4822 Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

DNA, Mitochondrial Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Adult DNA, Mitochondrial Endometriosis Endometriosis Female Humans Neoplasm Staging Oxidative Stress Reactive Oxygen Species Reactive Oxygen Species

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