Variants in COL6A3 gene influence susceptibility to esophageal cancer in the Chinese population.

Esophageal cancer (EC) is a frequent malignant tumor in our world, and has a highly morbidity and mortality. It was reported that genetic factors play vital roles in its pathogenesis. Here, we performed a case - control study to evaluate the COL6A3 genetic variants and EC risk in a Chinese Han cohort. All subjects were genotyped with the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression after adjusting age and gender. We found that rs6720283 (G > A) allele had significantly enhanced EC risk (OR = 1.32, 95% CI = 1.11 alculate p = 0.002). Stratified analysis was performed by gender, age, alcohol drinking, BMI, TNM stage and lymph node metastasis, the results showed that rs7436, rs115510139 and rs6720283 were significantly associated with the risk of EC in different groups (all p < 0.05). Besides, no statistical significant was found between the COL6A3 gene polymorphisms and clinicopathological parameters such as TNM stage and lymph node metastasis among EC patients (p > 0.05). In conclusions, our study found that COL6A3 variants were associated with risk of EC in the Chinese population.