ArticleDiabetologia2018
The chromosome 6q22.33 region is associated with age at diagnosis of type 1 diabetes and disease risk in those diagnosed under 5 years of age.
Article in Diabetologia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Association of genetic variation with age at diagnosis in type 1 diabetes.BMJ open diabetes research & care · 2026Pooled it
- Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes.Journal of internal medicine · 2021Pooled it
- The role of classical protein tyrosine phosphatases in diabetic kidney disease and therapeutic implications.Journal of biomedical science · 2026Review
- The role of Themis in development of type 2 diabetes.Research square · 2025Article
- Genetic Associations With C-peptide Levels Before Type 1 Diabetes Diagnosis in At-risk Relatives.The Journal of clinical endocrinology and metabolism · 2025Article
- Article
- PTPRK regulates glycolysis and de novo lipogenesis to promote hepatocyte metabolic reprogramming in obesity.Nature communications · 2024Article
- A functional variant rs912304 for late-onset T1D risk contributes to islet dysfunction by regulating proinflammatory cytokine-responsive gene STXBP6 expression.BMC medicine · 2024Article
- Themis controls T cell activation, effector functions, and metabolism of peripheral CD8Life science alliance · 2023Article
- Immunogenetic Metabolomics Reveals Key Enzymes That Modulate CAR T-cell Metabolism and Function.Cancer immunology research · 2023Article
- The rare DRB1*04:08-DQ8 haplotype is the main HLA class II genetic driver and discriminative factor of Early-onset Type 1 diabetes in the Portuguese population.Frontiers in immunology · 2023Article
- Age-associated mortality is partially mediated by TERT promoter mutation status in differentiated thyroid carcinoma.PloS one · 2023Article
- Thymocyte regulatory variant alters transcription factor binding and protects from type 1 diabetes in infants.Scientific reports · 2022Article
- Improved genetic risk scoring algorithm for type 1 diabetes prediction.Pediatric diabetes · 2022Article
- Characterising the age-dependent effects of risk factors on type 1 diabetes progression.Diabetologia · 2022Article
- HLA-associated outcomes in peanut oral immunotherapy trials identify mechanistic and clinical determinants of therapeutic success.Frontiers in immunology · 2022Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.Nature genetics · 2021Article
- Prediction and Prevention of Type 1 Diabetes.Frontiers in endocrinology · 2020Review
- Human Regulatory T Cells From Umbilical Cord Blood Display Increased Repertoire Diversity and Lineage Stability Relative to Adult Peripheral Blood.Frontiers in immunology · 2020Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
aims/hypothesisThe genetic risk of type 1 diabetes has been extensively studied. However, the genetic determinants of age at diagnosis (AAD) of type 1 diabetes remain relatively unexplained. Identification of AAD genes and pathways could provide insight into the earliest events in the disease process.
methodsUsing ImmunoChip data from 15,696 cases, we aimed to identify regions in the genome associated with AAD.
resultsTwo regions were convincingly associated with AAD (p < 5 × 10 CONCLUSION/
interpretationPTPRK and its neighbour THEMIS are required for early development of the thymus, which we can assume influences the initiation of autoimmunity. Non-HLA genes may only be detectable as risk factors for the disease in individuals diagnosed under the age 5 years because, after that period of immune development, their role in disease susceptibility has become redundant.
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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.