Impact of GTF2H1 and RAD54L2 gene polymorphisms on the non-small cell lung cancer with Platinum chemotherapy in high altitude areas

Background Repair pathway genes are closely related to the sensitivity of tumor patients to drugs. It is particularly important to study the correlation between non-small cell lung cancer (NSCLC) and DNA repair gene (GTF2H1 and RAD54L2) in high altitude areas.Materials and methods Four SNPs on RAD54L2 and five SNPs on GTF2H1 were genotyped via the Agena MassARRAY in 506 age-and gender-matched patients with NSCLC and 510 healthy controls. The influence of GTF2H1 and RAD54L2 on lung cancer was assessed by logistic regression analysis. The effects of polymorphisms of these two genes on the efficacy and side effects of NSCLC patients with platinum-based chemotherapy were further evaluated.Results RAD54L2 rs9864693 GC heterozygote genotype was increased the risk of NSCLC (OR = 1.33, 95%CI: 1.01 – 1.77, p = 0.045). Stratified analysis found that GTF2H1 rs4150667 promoted the risk of lung cancer in individuals younger than 59 years group (OR = 1.32, 95%CI: 1.00 – 1.75, p = 0.048). However, the individuals with GTF2H1 rs3802967 CT-TT reduced the risk of the lung squamous cell carcinoma by 32% (OR = 0.68, 95%CI: 0.46 – 0.99, p = 0.045). The patients with GTF2H1 rs3802967 TT genotypes showed a significantly higher curative effect (OR = 2.65, 95%CI: 1.14 - 6.15, p = 0.023); patients with GTF2H1 rs3802967 TT genotypes showed a significantly lower risk of side effects (OR = 0.32, 95%CI: 0.10 - 0.98, p = 0.047).Conclusion Our study indicated that RAD54L2 and GTF2H1 gene was associated with NSCLC susceptibility.