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The abundant expression of  collagen type VI α5  ( COL6A5 ) exists in lung tissue, and its role in lung cancer is still unknown. We performed a genetic association study with an attempt to detect the relationships between single nucleotide polymorphisms (SNPs) in  COL6A5  and lung cancer predisposition in Chinese Han population. We finally selected six tag-SNPs to determine their genotypes among 510 lung cancer patients and 495 healthy controls with the MassARRAY platform. The associations of SNPs and lung cancer risk were estimated by logistic regression method with adjustment for confounding factors. Two available databases were used for gene expression and prognosis analysis.  COL6A5  rs13062453, rs1497305, and rs77123808 were significantly associated with the risk of lung cancer in the whole population or stratified subgroups ( p  < 0.05). Among them,  COL6A5  rs13062453 and rs1497305 were also linked to the susceptibility of lung adenocarcinoma. Additionally, rs1497305 was found to be strongly related to the TNM staging under five genetic models ( p  < 0.05). Results from databases suggested the important role of  COL6A5  in lung cancer development.  COL6A5  polymorphisms rs13062453, rs1497305 and rs77123808 were associated with lung cancer risk in Chinese Han population. These findings first yield new insight of  COL6A5  in lung cancer.

Collagen type VI α5 gene variations may predict the risk of lung cancer development in Chinese Han population