Attar R, Cacina C, Sozen S, Attar E, Agachan B
Department of Obstetrics and Gynecology, Yeditepe University Hospital, Istanbul, Turkey.
Genet Mol Res. 2010 Apr 6;9(2):629-36. doi: 10.4238/vol9-2gmr779.
Several polymorphisms in the DNA repair gene are thought to have significant effects on cancer risk. We investigated the association of polymorphisms in the DNA repair genes XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His, APE1 Asp148Glu, and HOGG1 Ser326Cys with endometriosis risk. Genotypes were determined by PCR-RFLP assays in 52 patients with endometriosis and 101 age-matched healthy controls. Although there were no significant (P > 0.05) differences in the frequencies of genotypes or alleles of APE1, XRCC1, XPD, XPG, and HOGG1 genes between patients and controls, the frequency of the XRCC3 Thr/Thr genotype was significantly greater in endometriosis patients compared with controls (P = 0.005). XRCC3 Thr/Met genotypes (P = 0.022), and the Met allele (P = 0.005) seem to have a protective role against endometriosis. The distributions of genotypes and alleles of the genes APE1, XRCC1, XRCC3, XPD, XPG, and HOGG1 were not significantly associated with the different stages of endometriosis (P > 0.05). We conclude that the XRCC3 Thr/Thr genotype is associated with endometriosis in Turkish women.
DNA修复基因中的几种多态性被认为对癌症风险有显著影响。我们研究了DNA修复基因XRCC1 Arg399Gln、XRCC3 Thr241Met、XPD Lys751Gln、XPG Asp1104His、APE1 Asp148Glu和HOGG1 Ser326Cys中的多态性与子宫内膜异位症风险的关联。通过PCR-RFLP分析确定了52例子宫内膜异位症患者和101例年龄匹配的健康对照的基因型。虽然患者和对照之间APE1、XRCC1、XPD、XPG和HOGG1基因的基因型或等位基因频率没有显著差异(P>0.05),但与对照相比,子宫内膜异位症患者中XRCC3 Thr/Thr基因型的频率显著更高(P=0.005)。XRCC3 Thr/Met基因型(P=0.022)和Met等位基因(P=0.005)似乎对子宫内膜异位症有保护作用。APE1、XRCC1、XRCC3、XPD、XPG和HOGG1基因的基因型和等位基因分布与子宫内膜异位症的不同阶段无显著关联(P>0.05)。我们得出结论,XRCC3 Thr/Thr基因型与土耳其女性的子宫内膜异位症有关。