Potentially functional polymorphisms in ATG10 are associated with risk of breast cancer in a Chinese population |
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Authors: | Zhenzhen Qin Jialei Xue Yisha He Hongxia Ma Guangfu Jin Jiaping Chen Zhibin Hu Xiao'an Liu Hongbing Shen |
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Affiliation: | 1. State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 211166, China;2. MOE Key Laboratory of Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing 211166, China;3. Section of Clinical Epidemiology, Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing 211166, China;4. Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China |
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Abstract: | Autophagy is a cellular process directed at recycling of cellular proteins and removal of intracellular microorganisms, which is important for balancing sources of energy at critical times in development and in response to nutrient stress. It has been reported to be a critical process in cancer initiation and progression. We hypothesized that genetic variants in critical genes of autophagy may be involve in the development of breast cancer. Thus, we systematically screened 14 potentially functional polymorphisms in six autophagy-related genes (ATG3, ATG5, ATG7, ATG10, and ATG12 and LC3) that are core components in autophagosome formation. We conducted a case-control study including 1064 breast cancer cases and 1073 cancer-free controls to evaluate the associations of these variants with breast cancer risk. We found that rs1864182 and rs10514231 in ATG10 were significantly associated with a decreased risk of breast cancer [odds ratios (OR) = 0.77, 95% confidence interval (CI): 0.61–0.96, P = 0.023; and OR = 0.75, 95% CI: 0.59–0.93, P = 0.010, respectively]. Similar protective effects for both loci were observed between subgroups stratified by ages at diagnosis/recruitment, menarche and first live birth, and status of menopause, estrogen receptor (ER) and progesterone receptor (PR). These results suggest that genetic variants in ATG10 may implicate with breast cancer susceptibility in Chinese population. Further large and functional studies are needed to confirm our findings. |
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Keywords: | ATG, Autophagy-related genes ER, Estrogen receptor PR, Progesterone receptor SNP, Single nucleotide polymorphism ESEs, Exonic splicing enhancers GWAS, Genome-wide association studies OR, Odds ratios CI, 95% confidence interval LD, Linkage disequilibrium |
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