Gulbay Gonca, Yesilada Elif, Celik Onder, Yologlu Saim
Department of Medical Biology and Genetics, Faculty of Medicine, Inonu University, Private Clinic, Turkey. Email:
Asian Pac J Cancer Prev. 2017 May 1;18(5):1219-1223. doi: 10.22034/APJCP.2017.18.5.1219.
Background: PCOS was reported to arise from the interaction of genetic and environmental factors. Some studies reported that women with PCOS have DNA damage and chromosome breakage. Such studies bring to mind the genes that are involved in DNA repairing. At present, several DNA repair genes and, as products of these genes, certain polymorphisms that alter the activity of proteins are known in the literature. The aim of this dissertation is to study the genomic instability that have been reported in PCOS cases along with the relationship between XRCC1 Arg194Trp, XRCC1 Arg399Gln, APE1 Asp148Glu, and XPD Lys751Gln polymorphisms in order to contribute to the pathogenesis of PCOS. Methods: Polymorphisms in DNA repair genes have been associated with the increased risk of various diseases and could also be related to the etiology of PCOS. Therefore, we conducted a study including 114 women with PCOS and 91 controls. These polymorphisms were determined by quantitative real time PCR and melting curve analysis using LightCycler. Results: Comparing the control groups at the end of the study, the results have not shown any statistically significant difference as far as XRCC1 Arg194Trp, XRCC1 Arg399Gln, and XPD Lys751Gln polymorphisms are concerned. However, there were notable differences between the groups in terms of APE1 Asp148Glu polymorphism. Associated with this condition, it has been noted that both mutant allele (Glu) frequency (37.72 % in the study group; 19.23% in the control group, p=0.0001) and homozygous mutant genotype (Glu/Glu) frequency (%12.28 in the study group; %6.60 in the control group, p=0.015) have been higher in the study group.
据报道，多囊卵巢综合征（PCOS）源于遗传和环境因素的相互作用。一些研究报告称，患有PCOS的女性存在DNA损伤和染色体断裂。此类研究让人联想到参与DNA修复的基因。目前，文献中已知几种DNA修复基因以及作为这些基因产物的某些改变蛋白质活性的多态性。本论文的目的是研究PCOS病例中报道的基因组不稳定性，以及XRCC1 Arg194Trp、XRCC1 Arg399Gln、APE1 Asp148Glu和XPD Lys751Gln多态性之间的关系，以有助于PCOS的发病机制研究。方法：DNA修复基因中的多态性与多种疾病风险增加相关，也可能与PCOS的病因有关。因此，我们进行了一项研究，纳入114名PCOS女性和91名对照。使用LightCycler通过定量实时PCR和熔解曲线分析确定这些多态性。结果：在研究结束时比较对照组，就XRCC1 Arg194Trp、XRCC1 Arg399Gln和XPD Lys751Gln多态性而言，结果未显示任何统计学上的显著差异。然而，在APE1 Asp148Glu多态性方面，两组之间存在显著差异。与此情况相关的是，已注意到研究组中突变等位基因（Glu）频率（研究组为37.72%；对照组为19.23%，p = 0.0001）和纯合突变基因型（Glu/Glu）频率（研究组为12.28%；对照组为6.60%，p = 0.015）均高于对照组。
