Background: Lung cancer is one of the leading cause of cancer-related death in the world. Recently, many clinical researches have reported that COL6A3 had strong role in many diseases. The aim of this study was to evaluate the association between single nucleotide polymorphisms (SNPs) in COL6A3 and lung cancer susceptibility.
Method: Eight variants in COL6A3 were genotyped in a Chinese Han population including 510 cases and 495 controls using Agena MassARRAY. Genetic models and haplotype analyses were used to calculate the association between COL6A3 SNPs and lung cancer risk. And we assessed the relative risk by the odds ratio (OR) and 95% confidence interval (CI).
Results: In our results, we observed that rs115510139 was linked to an increased risk of lung cancer in the codominant (adjusted OR = 1.61, 95%CI: 1.14-2.27, p = 0.007), dominant (adjusted OR = 1.36, 95%CI: 1.02-1.83, p = 0.037), recessive (adjusted OR = 1.41, 95%CI: 1.07-1.85, p = 0.015), and log-additive (adjusted OR = 1.27, 95%CI: 1.07-1.51, p = 0.006) models. After gender stratification analysis, we found that rs115510139, rs3736341 and rs12052971 were significant in males but were non-significant in females. Rs115510139 also can increase the risk of lung cancer in the population of age less than 61 years. When analyzed for the association with lung squamous carcinoma, rs13032404, rs115510139 and rs3736341 were related to the risk of lung cancer.
Conclusions: Our findings indicated potential associations between COL6A3 polymorphisms and lung cancer risk, which may contribute to the identification of lung cancer patients in a Chinese population.
Keywords: Agena MassARRAY technology; COL6A3; Case-control study; Lung cancer; Single nucleotide polymorphisms; Susceptibility.