Results
| PMID | 22084859 |
| Gene Name | XRCC1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | XRCC1 107*AA/AG/GG, XRCC1 194*TT/TC/CC, HOGG1*CC/CG/GG, KCNQ2*AA/AC/CCC and AT1R*AA/AC/CC |
| Population size | 248 |
| Population details | 248 (136 endometriosis, 112 non- endometriosis) |
| Sex | Female |
| Associated genes | XRCC1, hOGG1, KCNQ2, AT1R |
| Other associated phenotypes |
Endometriosis |
|
Gynecol Endocrinol. 2012 Apr;28(4):305-9. doi: 10.3109/09513590.2011.631624. Epub Hsieh, Yao-Yuan| Chang, Chi-Chen| Chen, Shih-Yin| Chen, Chih-Ping| Lin, Wen-Hsin| Tsai, Fuu-Jen School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan. 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. Mesh Terms: Alleles| DNA Glycosylases/*genetics| DNA-Binding Proteins/*genetics| Endometriosis/*genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Humans| KCNQ2 Potassium Channel/*genetics| *Polymorphism, Single Nucleotide| Pre |
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