Avci Hakan, Ergen Arzu, Bireller Elif Sinem, Ertugrul Baris, Cakmakoglu Bedia
Department of Otolaryngology Head and Neck Surgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Capa, Istanbul, Turkey.
Biochem Genet. 2017 Dec;55(5-6):378-386. doi: 10.1007/s10528-017-9806-9. Epub 2017 Jun 21.
Single nucleotide polymorphisms of DNA repair genes alter protein function and modulate DNA repair efficiency in various cancers. The X-ray repair cross-complementing group (XRCC) is responsible for the repair of DNA base damage and single-strand breaks. The aim of our study was to investigate the association of XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms with the susceptibility to develop oral squamous cell carcinoma (OSCC) in Turkish subjects. One hundred eleven patients with OSCC and 148 healthy controls were recruited for the study. Genetic analysis was performed using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). We found that the XRCC1 Arg399Gln Gln/Gln genotype and Gln allele were risk factors for OSCC. Also, Arg/Arg genotype and Arg allele had protective effects against OSCC. Relative to XRCC3 Thr241Met polymorphism, carrying homozygote variants (Thr/Thr and Met/Met) was related with elevated OSCC risk. However, the heterozygote genotype and Thr allele variants were shown to be protective against OSCC. We suggest that XRCC1 Arg399Gln Gln/Gln genotype, Gln allele, and homozygote variants of XRCC3 Thr241Met polymorphism may be a risk factor for predisposition of OSCC in Turkish. In addition, XRCC3 Thr241Met genotype could be associated with tumor size and level of daily smoking.
DNA修复基因的单核苷酸多态性会改变蛋白质功能，并调节多种癌症中的DNA修复效率。X射线修复交叉互补基因（XRCC）负责修复DNA碱基损伤和单链断裂。我们研究的目的是调查土耳其人群中XRCC1基因Arg399Gln多态性和XRCC3基因Thr241Met多态性与患口腔鳞状细胞癌（OSCC）易感性之间的关联。本研究招募了111例OSCC患者和148名健康对照者。采用聚合酶链反应/限制性片段长度多态性（PCR/RFLP）进行基因分析。我们发现，XRCC1基因Arg399Gln位点的Gln/Gln基因型和Gln等位基因是OSCC的危险因素。此外，Arg/Arg基因型和Arg等位基因对OSCC具有保护作用。相对于XRCC3基因Thr241Met多态性，携带纯合子变异（Thr/Thr和Met/Met）与OSCC风险升高相关。然而，杂合子基因型和Thr等位基因变异对OSCC具有保护作用。我们认为，XRCC1基因Arg399Gln位点的Gln/Gln基因型、Gln等位基因以及XRCC3基因Thr241Met多态性的纯合子变异可能是土耳其人群发生OSCC的一个危险因素。此外，XRCC3基因Thr241Met基因型可能与肿瘤大小和每日吸烟量有关。
