Background

XPD Lys751Gln polymorphism may modulate inter-individual variation in repair capacity of DNA, which may enhance a person’s susceptibility to develop colorectal cancer (CRC). The analysis of XPD Lys751Gln polymorphism may provide important information for identifying high-risk individuals and for selecting the most appropriate treatment for poor prognostic CRC patients.

Objective

The overall objective was to find out the association of XPD Lys751Gln gene polymorphism with the risk of having a colorectal cancer and the ultimate clinical outcomes. In this study a total of 300 subjects (CRC and Controls), were genotyped for XPD Lys751Gln.

Methods

Using PCR–RFLP methods, the association of XPD Lys751Gln gene polymorphism with the risk of having a colorectal cancer was studied. In addition to overall risk assessment, genotyping results were also investigated with respect to the lifestyle risk factors, patients treated with oxaliplatin-based chemotherapy and clinicopathological characteristics.

Results

The overall correlation between the XPD Lys751Gln genetic variation and the CRC risk was observed to be significant with both the homozygous variant genotype Gln/Gln as well as heterozygous genotype Lys/Gln being associated with the increased risk of CRC. Additional stratified analyses revealed that XPD Lys751Gln variants remarkably increased risk of CRC in males and younger individuals (≤ 50 years), Naswar users (8.09-fold) and high intake of red meat.

Conclusions

Our findings suggest that the relationship between the XPD Lys751Gln variants and lifestyle factors modulates the risk for CRC in Pakistani population.

中文翻译：

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XPD Lys751Gln基因多态性与巴基斯坦人群大肠癌易感性和临床结局的关联：病例对照药理学研究

背景

XPD Lys751Gln多态性可能会调节DNA修复能力的个体差异，这可能会增强人患结直肠癌（CRC）的敏感性。XPD Lys751Gln基因多态性的分析可为识别高危个体和为预后不良的CRC患者选择最合适的治疗方法提供重要信息。

目的

总体目标是找出XPD Lys751Gln基因多态性与结直肠癌风险和最终临床结局的关系。在这项研究中，对300名受试者（CRC和对照）进行了XPD Lys751Gln基因分型。

方法

使用PCR-RFLP方法，研究了XPD Lys751Gln基因多态性与结直肠癌风险的关系。除了总体风险评估外，还针对生活方式风险因素，接受以奥沙利铂为基础的化学疗法治疗的患者以及临床病理特征对基因分型结果进行了调查。

结果

观察到XPD Lys751Gln遗传变异与CRC风险之间的整体相关性与纯合变异型基因型Gln / Gln和杂合基因型Lys / Gln均与CRC风险增加相关均很显着。其他分层分析显示，XPD Lys751Gln变体显着增加了男性和年轻人（≤50岁），Naswar使用者（8.09倍）和大量摄入红肉的CRC风险。

结论

我们的发现表明XPD Lys751Gln变体与生活方式因素之间的关系调节了巴基斯坦人群CRC的风险。