Guo Qin-xiang, Yang Wei-hua, Zhai Jin-fang, Han Fu-cai, Wang Chun-yan
Respiratory Department Division One, Shanxi Province Cancer Hospital, Taiyuan, Shanxi Province, China.
Tumour Biol. 2013 Oct;34(5):2989-94. doi: 10.1007/s13277-013-0863-3. Epub 2013 Jun 4.
The X-ray repair cross-complementation group 1 (XRCC1) protein plays an important role in base excision repair, and the genetic polymorphisms in the XRCC1 gene influence its function. XRCC1 codon 280 polymorphism is an Arg-His change in the XRCC1 gene. Many studies were published to investigate the association between XRCC1 codon 280 polymorphism and risk of lung cancer, but the results were inconsistent. We performed a meta-analysis of 16 studies with a total of 18,660 subjects (8,736 cases and 9,924 controls). The pooled odds ratios (OR) and corresponding 95 % confidence intervals (95 % CI) for the gene-disease association were calculated. Overall, there was a significant association between XRCC1 codon 280 polymorphism and increased risk of lung cancer (HisHis vs. ArgArg: OR = 1.53, 95 % CI 1.08-2.16, P = 0.016; HisHis vs. ArgArg/ArgHis: OR = 1.55, 95 % CI 1.10-2.19, P = 0.012). However, subgroup analysis by race failed to confirm the obvious association in Europeans and Asians. Therefore, there is a significant association between XRCC1 codon 280 polymorphism and increased risk of lung cancer. More studies with a large sample are needed to further evaluate the possible race-specific effect in the association above.
X射线修复交叉互补基因1（XRCC1）蛋白在碱基切除修复中起重要作用，XRCC1基因的遗传多态性会影响其功能。XRCC1密码子280多态性是XRCC1基因中的一个精氨酸-组氨酸变化。已有许多研究探讨XRCC1密码子280多态性与肺癌风险之间的关联，但结果并不一致。我们对16项研究进行了荟萃分析，共纳入18660名受试者（8736例病例和9924例对照）。计算了基因与疾病关联的合并比值比（OR）及相应的95%置信区间（95%CI）。总体而言，XRCC1密码子280多态性与肺癌风险增加之间存在显著关联（组氨酸-组氨酸基因型与精氨酸-精氨酸基因型相比：OR = 1.53，95%CI为1.08 - 2.16，P = 0.016；组氨酸-组氨酸基因型与精氨酸-精氨酸/精氨酸-组氨酸基因型相比：OR = 1.55，9%CI为1.10 - 2.19，P = 0.012）。然而，按种族进行的亚组分析未能证实欧洲人和亚洲人中存在明显关联。因此，XRCC1密码子280多态性与肺癌风险增加之间存在显著关联。需要更多大样本研究来进一步评估上述关联中可能存在的种族特异性效应。
