SynthesisScientific reports2018
CTLA-4 +49 G/A, a functional T1D risk SNP, affects CTLA-4 level in Treg subsets and IA-2A positivity, but not beta-cell function.
Synthesis in Scientific reports, 2018. 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, 28 citations in OpenAlex.
- Article
- Article
- Association between CTLA-4 gene polymorphisms and Type 1 diabetes in Kurdish patients.Frontiers in endocrinology · 2026Article
- Plasticity deficits of Tregs remodeling toward Th1-like and Th17-like Tregs in individuals with type 1 diabetes.Journal of endocrinological investigation · 2025Article
- Identifying genetically predisposed type 1 diabetes mellitus individuals in a Southern Brazilian population: The construction of a genetic risk score.Genetics and molecular biology · 2025Article
- The perfect storm: unraveling the interplay of genetic predisposition and viral triggers in type 1 diabetes pathogenesis.Frontiers in endocrinology · 2025Review
- Effect of SIRT1 gene single-nucleotide polymorphisms on susceptibility to type 1 diabetes in a Han Chinese population.Journal of endocrinological investigation · 2024Article
- Research progress of autoimmune diseases based on induced pluripotent stem cells.Frontiers in immunology · 2024Review
- Genetic variants and risk of endocrine autoimmunity in relatives of patients with Addison's disease.Endocrine connections · 2023Article
- A Concerted Vision to Advance the Knowledge of Diabetes Mellitus Related to Immune Checkpoint Inhibitors.International journal of molecular sciences · 2023Review
- Immune-related adverse effects of checkpoint immunotherapy and implications for the treatment of patients with cancer and autoimmune diseases.Frontiers in immunology · 2023Review
- Nature vs. nurture: FOXP3, genetics, and tissue environment shape Treg function.Frontiers in immunology · 2022Review
- CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus.The application of clinical genetics · 2022Article
- New Developments in T Cell Immunometabolism and Therapeutic Implications for Type 1 Diabetes.Frontiers in endocrinology · 2022Review
- Genome-Wide Identification ofFrontiers in endocrinology · 2022Article
- Immunological balance between Treg and Th17 lymphocytes as a key element of type 1 diabetes progression in children.Frontiers in immunology · 2022Article
- A semi-supervised model to predict regulatory effects of genetic variants at single nucleotide resolution using massively parallel reporter assays.Bioinformatics (Oxford, England) · 2021Article
- De-coding genetic risk variants in type 1 diabetes.Immunology and cell biology · 2021Review
- Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.Journal of translational medicine · 2021Review
- The Influence ofJournal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate whether CTLA-4 +49 G/A (rs231775), a tagSNP in Asian, is a functional T1D SNP, we genotyped this SNP with 1035 T1D patients and 2575 controls in Chinese Han population. And 1280 controls measured insulin release and sensitivity based on an oral glucose tolerance test; 283 newly diagnosed T1D patients assayed C-peptide level based on a mixed-meal tolerance test. 31 controls were analyzed for different T cell subsets by multi-color flow cytometry. Under additive model, we found that CTLA-4 +49 G/A was significantly associated with T1D (P = 2.82E-04, OR = 1.25, 95% CI: 1.12-1.41), which was further confirmed by meta-analysis (P = 1.19E-08, OR = 1.65, 95% CI: 1.38-1.96) in Chinese Han population. Although we did not find any association between this SNP and beta-cell function in either healthy individuals or newly diagnosed T1D patients, healthy individuals carrying GG/GA genotypes had lower CTLA-4 expression in naïve or activated CD4 Treg subsets (P = 0.0046 and 0.0317 respectively). A higher positive rate of IA-2A was observed among T1D patients with GG genotype compared with AA (OR = 0.51, 95% CI: 0.30-0.84, p = 0.008). Collectively, CTLA-4 +49 G/A reached a GWAS significant association with T1D risk in Chinese Han population, affects CTLA-4 expression in Treg subsets and subsequently humoral immunity in T1D patients.
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