Association between XPD gene polymorphisms and esophageal squamous cell carcinoma

Single nucleotide polymorphisms (SNPs) of Xeroderma pigmentosum group D (XPD) are associated with various types of cancer. However, previous studies of correlations between SNPs in this gene and esophageal squamous cell carcinoma (ESCC) have generated conflicting results. In the present study, we investigated the potential relationship between SNPs in two key regions of XPD, codons 312 and 751 and ESCC in a Chinese population. Polymerase chain reaction-restriction fragment length polymorphism was used to analyze genotypes at codons 312 and 751 of XPD in 400 ESCC patients (case group) and 400 healthy individuals (control group). Logistic regression was used to analyze the relationship between genotypes and ESCC. No statistically significant difference was observed for the genotype or allele frequencies of codon 312 between case and control groups (P>0.05). However, a statistically significant difference was observed in the genotype and allele frequencies of codon 751 between the case and control groups (P<0.05). Specifically, compared with the AA genotype at codon 751, a significant increase in risk of ESCC was detected for individuals with the CC genotype (OR=1.600; 95% CI, 1.137-2.253; P=0.007). Therefore, XPD polymorphism at codon 312 is not correlated with ESCC, while polymorphism at codon 751 is associated with ESCC and the CC genotype may confer increased susceptibility to the disease.