XRCC1 399*Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, and hOGG1 polymorphisms, are associated with higher susceptibility of endometriosis

Yao-Yuan Hsieh, Yao‐Yuan Hsieh, Chi-Chen Chang, Shih-Yin Chen, Shih‐Yin Chen, Chih‐Ping Chen, Chih-Ping Chen, Wen-Hsin Lin, Wen‐Hsin Lin, Fuu-Jen Tsai, Fuu‐Jen Tsai
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology · 2011 · vol. 28(4) , pp. 305–309 · doi:10.3109/09513590.2011.631624 · PMID:22084859 · W2073427999
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The XRCC1 Arg399Gln genotype and allele, but not other tested polymorphisms, were associated with increased susceptibility to endometriosis.

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Abstract

X-ray repair cross-complementing group 1 (XRCC1) and human 8-oxoguanine glycosylase 1 (hOGG1) play important roles in base excision repair. KCNQ genes comprising voltage-gated ion-channels related with cell stability. Angiotensin II type 1 receptor (AT1R) is related with angiogenesis, which influence endometriosis growth, invasion and regression. We aimed to investigate whether these polymorphisms were associated with endometriosis susceptibility. Women were divided [ 1 ]: endometriosis (n = 136 [ 2 ]); non-endometriosis groups (n = 112). XRCC1 (codon 107, 194, 399), hOGG1, KCNQ2, AT1R polymorphisms were amplified by PCR and detected by electrophoresis after restriction enzyme (RsaI, HpaII, MspI, Fnu4HI, Ava II, Dde I) digestions. Genotypes and allelic frequencies in both groups were compared. Proportions of XRCC1 Arg399Gln*GG/GA/AA and G/A allele between both groups were [ 1 ]: 41.9/53.7/4.4% and 68.8/31.2% [ 2 ]; 30.4/54.5/15.1% and 57.6/42.4% (p < 0.05). Other 5 polymorphisms (XRCC1 codon 107 and 194, hOGG1, KCNQ2, and AT1R) between both groups were non-significantly different. Proportions of XRCC1 107*AA/AG/GG and XRCC1 194*TT/TC/CC between both groups were [ 1 ]: 3.7/27.2/69.1% and 5.8/34.6/59.6% [ 2 ]; 2.6/21.4/75.8% and 11.6/37.5/50.9%. HOGG1*CC/CG/GG, KCNQ2*AA/AC/CCC and AT1R*AA/AC/CC were [ 1 ]: 14.8/42.6/42.6, 14/41.9/44.1 and 92.6/7.4/0% [ 2 ]; 11.6/50/38.4, 17/50/33 and 100/0/0%. We concluded that XRCC1 399 Arg-related genotype and allele are correlated with higher susceptibility to endometriosis, which suggested its association with endometriosis pathogenesis. XRCC1 107 and 194, hOGG1, KCNQ2, and AT1R are not associated with endometriosis susceptibility.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

DNA-Binding Proteins DNA Glycosylases Endometriosis Genetic Predisposition to Disease KCNQ2 Potassium Channel Polymorphism, Single Nucleotide Receptor, Angiotensin, Type 1 Alleles DNA-Binding Proteins DNA Glycosylases Endometriosis Female Gene Frequency Genotype Humans KCNQ2 Potassium Channel Premenopause Receptor, Angiotensin, Type 1 X-ray Repair Cross Complementing Protein 1

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