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hOGG1和XRCC1 DNA修复基因的单核苷酸多态性与波兰女性卵巢癌风险

Single nucleotide polymorphisms (SNPs) of hOGG1 and XRCC1 DNA repair genes and the risk of ovarian cancer in Polish women.

作者信息

Michalska Magdalena M, Samulak Dariusz, Romanowicz Hanna, Bieńkiewicz Jan, Sobkowski Maciej, Ciesielski Krzysztof, Smolarz Beata

机构信息

Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Kalisz, Poland.

Cathedral of Mother's and Child's Health, Poznan University of Medical Sciences, Poznań, Poland.

出版信息

Tumour Biol. 2015 Dec;36(12):9457-63. doi: 10.1007/s13277-015-3707-5. Epub 2015 Jun 30.

Abstract

The aim of this study was to determine single nucleotide polymorphisms in hOGG1 (Ser326Cys (rs13181)) and XRCC1 (Arg194Trp (rs1799782)) genes, respectively, and to identify the correlation between them and the overall risk, grading and staging of ovarian cancer in Polish women. Our study comprised 720 patients diagnosed with ovarian cancer and 720 healthy controls. The genotype analysis of hOGG1 and XRCC1 polymorphisms was performed using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (PCR-RFLP). Odds ratios (OR) and 95 % confidence intervals (CI) for each genotype and allele were calculated. Results revealed an association between hOGG1 Ser326Cys polymorphism and the incidence of ovarian cancer. Variant Cys allele of hOGG1 increased the overall cancer risk (OR 2.89; 95 % CI 2.47-3.38; p < .0001). Moreover, ovarian cancer grading remained in a relationship with both analysed polymorphisms; G1 tumours presented increased frequencies of hOGG1 Cys/Cys homozygotes (OR 18.33; 95 % CI 9.38-35.81; p < .0001) and XRCC1 Trp/Trp homozygotes (OR 20.50; 95 % CI 10.17-41.32; p < .0001). Furthermore, G1 ovarian cancers displayed an overrepresentation of Cys and Trp allele. In conclusion, hOGG1 Ser326Cys and XRCC1 Arg194Trp polymorphisms may be regarded as risk factors of ovarian cancer.

摘要

本研究旨在分别测定hOGG1基因(Ser326Cys,rs13181)和XRCC1基因(Arg194Trp,rs1799782)中的单核苷酸多态性,并确定它们与波兰女性卵巢癌总体风险、分级和分期之间的相关性。我们的研究包括720例被诊断为卵巢癌的患者和720名健康对照者。采用基于聚合酶链反应(PCR)的限制性片段长度多态性分析(PCR-RFLP)对hOGG1和XRCC1多态性进行基因分型分析。计算每种基因型和等位基因的比值比(OR)和95%置信区间(CI)。结果显示hOGG1 Ser326Cys多态性与卵巢癌发病率之间存在关联。hOGG1的Cys变异等位基因增加了总体癌症风险(OR 2.89;95%CI 2.47 - 3.38;p <.0001)。此外,卵巢癌分级与两种分析的多态性均有关联;G1期肿瘤中hOGG1 Cys/Cys纯合子(OR 18.33;95%CI 9.38 - 35.81;p <.0001)和XRCC1 Trp/Trp纯合子(OR 20.50;95%CI 10.17 - 41.32;p <.0001)的频率增加。此外,G1期卵巢癌中Cys和Trp等位基因的比例过高。总之,hOGG1 Ser326Cys和XRCC1 Arg194Trp多态性可能被视为卵巢癌的危险因素。

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