Association of autophagy gene polymorphisms with lung cancer

Abstract

[Introduction]: Lung cancer is considered one of the most common and lethal types of cancer. Risk factors include smoking, genetic susceptibility and chronic obstructive pulmonary disease (COPD). Autophagy, a mechanism to recycle damaged organelles and proteins that can cause also cell death by an alternative way to apoptosis, could be involved in lung cancer development. [Methods]: We have studied the genotype distribution for ATG2B (rs3759601), ATG5 (rs2245214), ATG10 (rs1864183) and ATG16L1 (rs2241880) polymorphisms in a sample of Spanish cohort of subjects with lung cancer compared to healthy volunteers. We also investigated the possible association of these polymorphisms in patients of lung cancer with and without COPD. [Results]: Patients with lung cancer exhibited a difference in allele distribution in ATG16L1 (rs2241880) polymorphism compared to the control group. The GG genotype showed a protective role in patients without COPD. Distribution of alleles in the other three polymorphisms was not statistically different between groups. [Conclusions]: ATG16L1 is closely related to apoptosis and immunity, and a decrease in its effect may favor cell death over inflammation and autophagy. This could explain the protective role of ATG16L1 (rs2241880) in our sample of smokers especially without COPD. Further confirmation is still required in other series.Funds for this project has been support via the European Commission (Grant number: 2012-2624) (EU Partnerships and International Cooperation with Jordan, Lebanon, Syria and Palestine, EPIC project). Supported by ISC IIII-FEDER: PI13/01741 Fernández-Mateos, J. was partially supported by a predoctoral research grant from the Junta de Castilla y León — Consejería de Educación and the European Social Fund to CC-B (EDU/1084/2012).Peer Reviewe