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Background  Mucin 1 (MUC1) contributes to the growth and metastasis of various cancers, including lung cancer, and  MUC1  gene length polymorphisms are associated with susceptibility to lung cancer and its prognosis. In contrast, the association between rs4072037, a single nucleotide polymorphism in  MUC1 , and lung cancer has not been well studied.    Methods  In the present study, we determined the rs4072037 genotype and measured serum KL-6 levels to evaluate the association between lung adenocarcinoma (ADC) and rs4072037 or serum KL-6 levels. DNA samples were available for 172 patients and these were included in the genomic analyses. In addition, 304 patients were included in the serum analyses. Furthermore, 276 healthy volunteers were included in both genomic and serum analyses.    Results  The rs4072037 genotype was not associated with susceptibility to lung ADC or its prognosis. Interestingly, serum KL-6 levels significantly differed according to rs4072037 genotype in those with T1 or T2 ( P  < 0.001), N0 or N1 ( P  = 0.002) and M0 ( P  < 0.001), but not in those with T3 or T4 ( P  = 0.882), N2 or N3 ( P  = 0.616) and M1a or M1b ( P  = 0.501). Serum KL-6 levels were significantly associated with the presence of lung ADC, as well as with its progression and prognosis, indicating the crucial involvement of KL-6/MUC1 in the development of lung cancer and its progression.    Conclusion  Based on these findings, we conclude that rs4072037 does not have a significant impact on the pathogenesis or prognosis of lung ADC, whereas serum KL-6 levels, which might reflecting the molecular length of MUC1, are significantly associated with lung ADC.    Electronic supplementary material  The online version of this article (doi:10.1186/s12885-017-3272-y) contains supplementary material, which is available to authorized users.

MUC1 in lung adenocarcinoma: cross-sectional genetic and serological study