Abstract
PurposeXeroderma pigmentsum group F (XPF) plays a pivotal role in DNA nucleotide excision repair and has been linked to the development of various cancers. This study aims to assess the association of XPF genetic variants with the susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese population.MethodsThis two-stage case-control study was conducted in a total of 1524 patients with ESCC and 1524 controls. Genotype of XPF -673C>T and 11985A>G variants were determined by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP). Logistic regression analysis was performed to estimate odd ratios (ORs) and 95% confidence intervals (95% CI).ResultsOur case-control study showed that XPF -673TT genotype was associated with a decreased risk of ESCC compared with CC genotype in both case-control sets (Tangshan set: OR = 0.58; 95%CI = 0.34–0.99, P = 0.040; Beijing set: OR = 0.66; 95%CI = 0.46–0.95, P = 0.027). Stratified analyses revealed that a multiplicative interaction between -673C>T variant and age, sex or smoking status was evident (Gene-age: Pinteraction = 0.002; Gene-sex: Pinteraction = 0.002; Gene-smoking: Pinteraction = 0.002). For XPF 11985A>G polymorphism, there was no significant difference of genotype distribution between ESCC cases and controls.ConclusionThese findings indicated that genetic variants in XPF might contribute to the susceptibility to ESCC.
Highlights
Esophageal squamous cell carcinoma (ESCC), as one of the most common malignant tumors, is a serious threat to human and health
The observed genotype frequencies of Xeroderma pigmentsum group F (XPF) polymorphism (-673C.T and 11985A.G) in both controls were consistent with Hardy-Weinberg equilibrium in both sets (Tangshan set: P = 0.06 and P = 0.50; Beijing set: P = 0.40 and P = 0.97)
Multivariate logistic regression analysis were used to calculate the association of XPF -673C.T or 11985A.G genotypes with ESCC risk (Table 2)
Summary
Esophageal squamous cell carcinoma (ESCC), as one of the most common malignant tumors, is a serious threat to human and health. Almost 50% of ESCC cases occur in China [1].The development of ESCC is a complex process, which is related to the multiple environment factors, including diet [2], infection [3], lifestyle factors, tobacco smoking and alcohol [4]. Individuals, who exposed to the same risk factors, had different susceptibility to ESCC, indicating the essential role of genetic factor in the development of ESCC [5,6,7]. Nucleotide excision repair (NER) was one of the most versatile DNA repair systems. It removes a wide range of DNA lesions, such as UV-included pyrimidine dimer, DNA cross-link and oxidative damage to maintain DNA stability [8,9]. Deficiencies in the DNA repair capacity have been linked to increased risk of multiple cancers [10]
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