ArticleEndocrine2021
Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity.
Article in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Type 1 Diabetes and Other Autoimmune Diseases-Epidemiology, Pathophysiology and Screening.Endocrinology, diabetes & metabolism · 2026Review
- Genetics of Vitiligo: A Review.Clinical, cosmetic and investigational dermatology · 2026Review
- Pathogenic genes associated with immune-related genes in graves' disease: a multi-omics Mendelian randomization analysis.Scientific reports · 2025Article
- Autoimmune Gastritis andInternational journal of molecular sciences · 2025Review
- Clinical and serological characteristics of type 3 APS, isolated T1DM and LADY/LADA.BMC endocrine disorders · 2025Article
- Systematic Analysis and Network Mapping of Disease Associations in Autoimmune Polyglandular Syndrome.The Journal of clinical endocrinology and metabolism · 2025Article
- Exploring antigenic variation in autoimmune endocrinopathy.Frontiers in immunology · 2025Review
- Review
- Article
- Update in Molecular Aspects and Diagnosis of Autoimmune Gastritis.Current issues in molecular biology · 2023Review
- Knockout mouse models as a resource for the study of rare diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Genetic variants and risk of endocrine autoimmunity in relatives of patients with Addison's disease.Endocrine connections · 2023Article
- Autoimmune polyglandular syndrome type 4: experience from a single reference center.Frontiers in endocrinology · 2023Observational
- Blood levels of T-Cell Receptor Excision Circles (TRECs) provide an index of exposure to traumatic stress in mice and humans.Translational psychiatry · 2022Article
- The genetics of autoimmune Addison disease: past, present and future.Nature reviews. Endocrinology · 2022Review
- The role behind the scenes of Tregs and Th17s in Hashimoto's thyroiditis: Toward a pivotal role of FOXP3 and BACH2.Frontiers in immunology · 2022Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenetically predisposed individuals may develop several autoimmune diseases-autoimmune polyendocrine syndromes (APS). APS types 2-4, are complex disorders, which combine various organ-specific autoimmune conditions. Recent reports support the considerable role of the BACH2 gene in immune cell differentiation and shifting the T-cell balance towards regulatory T-cells. BACH2 polymorphisms are associated with autoimmune disorders, including Addison's disease (AD), Graves' disease (GD), and probably type 1 diabetes (T1D). Our study was aimed to investigate the BACH2 variant, rs3757247, in endocrine autoimmunity in the Polish population.
methodsThe analysis comprised 346 individuals with APS, 387 with T1D only, and 568 controls. Genotyping was performed using TaqMan chemistry.
resultsAPS type 2 was found in 219 individuals, type 3 in 102, and type 4 in 25 subjects. Overall, AD was diagnosed in 244 subjects, Hashimoto's thyroiditis-in 238, T1D-in 127, GD-in 58, vitiligo and chronic gastritis each in 40 patients, celiac disease-in 28, premature menopause in 18, and alopecia in 4 patients. Minor T allele at rs3757247 was found in 56.4% APS vs. 44.1% control alleles (OR 1.59; 95%CI: 1.30-1.95, p < 0.0001). The distribution of genotypes revealed excess TT homozygotes in the APS cohort (33.2 vs. 20.1% in controls, p < 0.0001). The frequencies of rs3757247 alleles and genotypes in T1D patients did not present significant differences vs. controls (p-values > 0.05).
conclusionsThese results provide evidence of the association between BACH2 polymorphism and polyglandular autoimmunity. Since carriers of rs3757247 display increased risk for additional autoimmune conditions, this variant could identify individuals prone to develop APS.
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