ArticleCancer medicine2016
Variants in autophagy-related genes and clinical characteristics in melanoma: a population-based study.
Article in Cancer medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 26 citations in OpenAlex.
- Variations in Autophagy-Related GenesCancers · 2026Article
- The interplay between autophagy and immunogenic cell death: nanomaterial-based strategies for cancer immunotherapy.Journal of nanobiotechnology · 2026Review
- Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer.Molecular biology reports · 2024Article
- Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.Autophagy · 2022Article
- A loss-of-function polymorphism inOncoimmunology · 2022Article
- Autophagy ATG16L1 rs2241880 impacts the colorectal cancer risk: A case-control study.Journal of clinical laboratory analysis · 2022Article
- Functional Genetic Variants inCancers · 2021Article
- Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.International journal of molecular sciences · 2020Review
- Non-Apoptotic Cell Death Signaling Pathways in Melanoma.International journal of molecular sciences · 2020Review
- Association Study of Genetic Variants in Autophagy Pathway and Risk of Non-syndromic Cleft Lip With or Without Cleft Palate.Frontiers in cell and developmental biology · 2020Article
- Clinical Implications of the Autophagy Core Gene Variations in Advanced Lung Adenocarcinoma Treated with Gefitinib.Scientific reports · 2017Article
- Analysis of autophagy gene polymorphisms in Spanish patients with head and neck squamous cell carcinoma.Scientific reports · 2017Article
- Variants in autophagy-related genes and clinical characteristics in melanoma: a population-based study.Cancer medicine · 2016Article
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22 authors at 11 institutions in 5 countries.
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Abstract
Autophagy has been linked with melanoma risk and survival, but no polymorphisms in autophagy-related (ATG) genes have been investigated in relation to melanoma progression. We examined five single-nucleotide polymorphisms (SNPs) in three ATG genes (ATG5; ATG10; and ATG16L) with known or suspected impact on autophagic flux in an international population-based case-control study of melanoma. DNA from 911 melanoma patients was genotyped. An association was identified between (GG) (rs2241880) and earlier stage at diagnosis (OR 0.47; 95% Confidence Intervals (CI) = 0.27-0.81, P = 0.02) and a decrease in Breslow thickness (P = 0.03). The ATG16L heterozygous genotype (AG) (rs2241880) was associated with younger age at diagnosis (P = 0.02). Two SNPs in ATG5 were found to be associated with increased stage (rs2245214 CG, OR 1.47; 95% CI = 1.11-1.94, P = 0.03; rs510432 CC, OR 1.84; 95% CI = 1.12-3.02, P = 0.05). Finally, we identified inverse associations between ATG5 (GG rs2245214) and melanomas on the scalp or neck (OR 0.20, 95% CI = 0.05-0.86, P = 0.03); ATG10 (CC) (rs1864182) and brisk tumor infiltrating lymphocytes (TILs) (OR 0.42; 95% CI = 0.21-0.88, P = 0.02), and ATG5 (CC) (rs510432) with nonbrisk TILs (OR 0.55; 95% CI = 0.34-0.87, P = 0.01). Our data suggest that ATG SNPs might be differentially associated with specific host and tumor characteristics including age at diagnosis, TILs, and stage. These associations may be critical to understanding the role of autophagy in cancer, and further investigation will help characterize the contribution of these variants to melanoma progression.
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