ArticlePloS one2015
Polymorphisms in autophagy genes are associated with paget disease of bone.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 53 citations in OpenAlex.
- Influence of ATG SNPs on hip fracture patients' functional status.Scientific reports · 2025Observational
- The p.R321C mutation in the p62 protein is associated with abnormalities in the central nervous system.Scientific reports · 2025Article
- Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy.Advanced biomedical research · 2025Article
- Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.Autophagy · 2022Article
- Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.BMC cancer · 2022Article
- Emerging views of OPTN (optineurin) function in the autophagic process associated with disease.Autophagy · 2022Review
- The Association of ATG16L1 Variations with Clinical Phenotypes of Adult-Onset Still's Disease.Genes · 2021Article
- Genetic Determinants of Paget's Disease of Bone.Current osteoporosis reports · 2021Review
- Immunoexpression pattern of autophagy mediators in alveolar bone osteoclasts following estrogen withdrawal in female rats.Journal of molecular histology · 2021Article
- Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.International journal of molecular sciences · 2020Review
- Autophagy and disease: unanswered questions.Cell death and differentiation · 2020Review
- Review
- BiallelicNeurology · 2018Article
- Human Genetics of Sclerosing Bone Disorders.Current osteoporosis reports · 2018Review
- Potentially Functional Variants of ATG16L2 Predict Radiation Pneumonitis and Outcomes in Patients with Non-Small Cell Lung Cancer after Definitive Radiotherapy.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2018Article
- Association between genetic polymorphisms in the autophagy-related 5 gene promoter and the risk of sepsis.Scientific reports · 2017Article
- Analysis of autophagy gene polymorphisms in Spanish patients with head and neck squamous cell carcinoma.Scientific reports · 2017Article
- Clinical and Genetic Advances in Paget's Disease of Bone: a Review.Clinical reviews in bone and mineral metabolism · 2017Review
- Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD.Autophagy · 2016Article
- The T300A Crohn's disease risk polymorphism impairs function of the WD40 domain of ATG16L1.Nature communications · 2016Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paget disease of bone (PDB) is a focal bone disorder affecting the skeleton segmentally. The main alteration resides in osteoclasts that increase in size, number and activity. Many osteoclasts have cytoplasmic inclusions that have been associated with protein aggregates, increasing the evidences of a possible deregulation of autophagy in the development of the PDB. Autophagy starts with encapsulation of the target into a double-membrane-bound structure called an "autophagosome." It has been reported that at least 18 ATG genes (autophagy-related genes) are involved in autophagosome formation. We have studied the distribution of genotypes of the ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183 and ATG5 rs2245214 polymorphisms in a Spanish cohort of subjects with PDB and compared with healthy subjects. Our results show that being a carrier of the C allele of the ATG16L1 rs2241880 and the G allele of ATG5 rs2245214 polymorphisms were associated with an increased risk of developing PDB, whereas being a carrier of the T allele of ATG10 rs1864183 polymorphism decreased the risk of suffering the disease in our series. This is the first report that shows an association between autophagy and Paget Disease of Bone and requires further confirmation in other series.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.