Michalska Magdalena M, Samulak Dariusz, Romanowicz Hanna, Sobkowski Maciej, Smolarz Beata
Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Poznańska 79, 62-800 Kalisz, Poland.
Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Poznańska 79, 62-800 Kalisz, Poland ; Cathedral of Mother's and Child's Health, Poznan University of Medical Sciences, Polna 33, 60-535 Poznań, Poland.
Adv Med. 2015;2015:109593. doi: 10.1155/2015/109593. Epub 2015 Oct 7.
Aim. The aim of this study was to evaluate the role of the Lys751Gln (rs13181) ERCC2 gene polymorphism in clinical parameters and the risk for development of ovarian cancer. Material and Methods. The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. Results. The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37-7.43; p < 0.0001). Association of Lys751Gln polymorphism with histological grading showed increased ERCC2 Gln/Gln (OR = 6.96; 95% CI 3.41-14.21; p < 0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37-7.40; p < 0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase in ERCC2 Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed. Conclusion. On the basis of these results, we conclude that ERCC2 gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.
目的。本研究旨在评估ERCC2基因Lys751Gln（rs13181）多态性在临床参数及卵巢癌发生风险中的作用。材料与方法。本研究纳入430例卵巢癌患者（平均年龄：53.2±10.11）和430名健康受试者（平均年龄：50.31±18.21）。采用基于聚合酶链反应的限制性片段长度多态性（PCR-RFLP）方法进行基因多态性分析。计算每种基因型和等位基因的比值比（OR）及95%置信区间（CI）。结果。所得结果表明，Gln/Gln基因型与卵巢癌风险增加相关（OR 5.01；95% CI 3.37 - 7.43；p < 0.0001）。Lys751Gln多态性与组织学分级的关联显示，在1级分级中ERCC2 Gln/Gln基因型增加（OR = 6.96；95% CI 3.41 - 14.21；p < 0.0001），在G1期卵巢癌患者中Gln等位基因也过度表达（OR = 4.98；95% CI 3.37 - 7.40；p < 0.0001）。最后，在评估临床国际妇产科联盟（FIGO）分期时，观察到I期ERCC2 Gln/Gln纯合子频率增加以及SI期Gln等位基因频率增加。结论。基于这些结果，我们得出结论，ERCC2基因Lys751Gln多态性可能与卵巢癌风险增加相关。
