title: An intron SNP rs807185 in ATG4A decreases the risk of lung cancer in a southwest Chinese population.
abstract: Autophagy acts as a double-edged sword in cancer. Over the years, there has been growing evidence of the involvement of autophagy-related genes (ATGs) in the etiology and progression of cancer. Importantly, lung cancer is one of the most common cancers and represents the leading cause of cancer-related mortality in developing countries. The genomic variant has emerged as an important factor in the risk of lung cancer. Here, we hypothesize that the intron single-nucleotide polymorphism (SNP) of rs807185 in ATG4A is associated with the risk of lung cancer. In this case-control study, we genotyped the SNP rs807185 with PCR-restriction fragment length polymorphism. Our data suggest that the variant A allele frequency of rs807185 in controls is higher than that in cases (37.7 vs. 24.9%, P=0.006). The adjusted odds ratio is 1.989 (95% confidence interval 1.223-3.236). Compared with the wild T allele, the variant A allele of rs807185 in ATG4A is associated with a decreased risk of lung cancer (adjusted odds ratio=0.605, 95% confidence interval 0.456-0.803, P<0.001). Furthermore, stratified analysis in a recessive model suggests that the homozygous variant genotype (AA) of rs807185 could decrease the risk of lung cancer in smoking or nonsmoking groups. In conclusion, the variant of intron SNP rs807185 in ATG4A is associated significantly with a decreased risk of lung cancer in a southwest Chinese population. The results show that the variant rs807185 of ATG4A might be a protective factor for lung cancer.
authors.affiliation: Departments of aLaboratory Medicine bRespiratory Medicine, The Second Affiliated Hospital, Chongqing Medical University cDepartment of Laboratory Medicine, Chongqing Cancer Institute, Chongqing, People's Republic of China.
authors.forename: Qiao
authors.initials: Q
authors.lastname: He
authors.forename: Yunyao
authors.initials: Y
authors.lastname: Lu
authors.forename: Shiling
authors.initials: S
authors.lastname: Hu
authors.forename: Qin
authors.initials: Q
authors.lastname: Huang
authors.forename: Shengjin
authors.initials: S
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Huang
authors.forename: Qin
authors.initials: Q
authors.lastname: Hu
authors.forename: Lixiang
authors.initials: L
authors.lastname: Wu
authors.forename: Weixian
authors.initials: W
authors.lastname: Chen
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D000368:Aged; D044466:Asian People / Q000235:genetics*; D000071183:Autophagy-Related Proteins / Q000235:genetics*; D002289:Carcinoma, Non-Small-Cell Lung / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D003546:Cysteine Endopeptidases / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D008175:Lung Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D055752:Small Cell Lung Carcinoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology
chemical_list: D000071183:Autophagy-Related Proteins; C474025:ATG4A protein, human; D003546:Cysteine Endopeptidases