Department of Medical Laboratories Sciences, College of Applied Medical Sciences, Majmaah University, Majmaah, Saudi Arabia.
Research Center, College of Medicine, Qassim University, Buraidah, Saudi Arabia.
Nucleosides Nucleotides Nucleic Acids. 2022;41(5-6):530-554. doi: 10.1080/15257770.2022.2052317. Epub 2022 Mar 23.
This study demonstrated the association of polymorphisms in (Asp312Asn) rs1799793, (Lys751Gln) rs13181, (Arg399Gln) rs25487 and (Thr241Met) rs861539 polymorphisms with a susceptibility of lung cancer (LC) onset in the Saudi population. The study was performed on 134 LC patients and 270 controls. The data revealed that there was no significant association of LC with subtype squamous cell carcinoma (SCC), small cell lung cancer (SCLC) and adenocarcinoma with the rs1799793 polymorphism. The data showed that the CC genotype for rs13181, the AA genotype for rs25487, and the genotype TT for rs861539 were significantly associated with SCC susceptibility ( < 0.05). Similarly, the CC genotype for rs13181 and the AA genotype for rs25487 were significantly associated with adenocarcinoma susceptibility ( < 0.05). Whereas, the TT genotype for rs861539 was significantly associated with SCLC susceptibility ( = 0.005). In total, significant association of LC susceptibility was found in the following combination models of recessive genotypes: AC heterozygous for rs13181 + AA homozygous for rs25487, CC homozygous for rs13181 + GA heterozygous for rs25487, CC homozygous for rs13181 + AA homozygous for rs25487, CC homozygous for rs13181 + TT homozygous for rs861539, GA heterozygous for rs25487 + CT heterozygous for rs861539, GA heterozygous for rs25487 + TT homozygous for rs861539, AA homozygous for rs25487 + CT heterozygous for rs861539, AA homozygous for rs25487+ TT homozygous for rs861539. These data clearly demonstrated that the combination of recessive genotypes may be associated with susceptibility of LC onset ( < 0.05). In short, the data indicated that DNA repair genes increase LC risk via gene-gene interaction rather than independent variants.
这项研究表明，（Asp312Asn）rs1799793、（Lys751Gln）rs13181、（Arg399Gln）rs25487 和（Thr241Met）rs861539 多态性与沙特人群肺癌（LC）发病的易感性相关。该研究共纳入 134 例 LC 患者和 270 例对照。数据显示，rs1799793 多态性与肺鳞癌（SCC）、小细胞肺癌（SCLC）和腺癌亚型之间无显著相关性。数据显示，rs13181 的 CC 基因型、rs25487 的 AA 基因型和 rs861539 的 TT 基因型与 SCC 易感性显著相关（<0.05）。同样，rs13181 的 CC 基因型和 rs25487 的 AA 基因型与腺癌易感性显著相关（<0.05）。然而，rs861539 的 TT 基因型与 SCLC 易感性显著相关（=0.005）。总之，在以下隐性基因型组合模型中发现 LC 易感性的显著相关性：rs13181 的 AC 杂合子+rs25487 的 AA 纯合子、rs13181 的 CC 纯合子+rs25487 的 GA 杂合子、rs13181 的 CC 纯合子+rs25487 的 AA 纯合子、rs13181 的 CC 纯合子+rs861539 的 TT 纯合子、rs25487 的 GA 杂合子+rs861539 的 CT 杂合子、rs25487 的 GA 杂合子+rs861539 的 TT 纯合子、rs25487 的 AA 纯合子+rs861539 的 CT 杂合子、rs25487 的 AA 纯合子+rs861539 的 TT 纯合子。这些数据清楚地表明，隐性基因型的组合可能与 LC 发病的易感性相关（<0.05）。简而言之，数据表明 DNA 修复基因通过基因-基因相互作用而非独立变异增加 LC 风险。
