ArticleJournal of autoimmunity2015
Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.
Article in Journal of autoimmunity, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Autoimmune thyroiditis and comorbid autoimmune diseases: global research landscape and future directions.Frontiers in immunology · 2026Pooled it
- Identifying shared genetic loci and common risk genes of rheumatoid arthritis associated with three autoimmune diseases based on large-scale cross-trait genome-wide association studies.Frontiers in immunology · 2023Pooled it
- Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.Carcinogenesis · 2020Pooled it
- Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.Scientific reports · 2016Trial
- Genetic Determinants of Microvascular Complications of Type 1 Diabetes Mellitus: New Data from a Replication Study.Biomedicines · 2026Article
- Type 1 Diabetes and Other Autoimmune Diseases-Epidemiology, Pathophysiology and Screening.Endocrinology, diabetes & metabolism · 2026Review
- Coxsackievirus B infection invokes unique cell-type-specific responses in primary human pancreatic islets.Cell reports · 2025Article
- Article
- The association of common autoimmune diseases with autoimmune thyroiditis: a two-sample Mendelian randomization study.Frontiers in endocrinology · 2024Article
- Innate and adaptive immune abnormalities underlying autoimmune diseases: the genetic connections.Science China. Life sciences · 2023Review
- Break on through: The role of innate immunity and barrier defence in atopic dermatitis and psoriasis.Skin health and disease · 2022Review
- Shared etiology of type 1 diabetes and Hashimoto's thyroiditis: a population-based twin study.European journal of endocrinology · 2022Article
- The long and winding road: From mouse linkage studies to a novel human therapeutic pathway in type 1 diabetes.Frontiers in immunology · 2022Review
- Complex Inheritance of Rare Missense Variants inFrontiers in pediatrics · 2022Article
- Single cell sequencing analysis identifies genetics-modulated ORMDL3Journal of nanobiotechnology · 2021Article
- The Impact of Pro-Inflammatory Cytokines on Alternative Splicing Patterns in Human Islets.Diabetes · 2021Article
- Leveraging auxiliary data from arbitrary distributions to boost GWAS discovery with Flexible cFDR.PLoS genetics · 2021Article
- A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank.American journal of human genetics · 2021Article
- GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.Nature communications · 2021Article
- Associations of GWAS-Supported Non-MHC Genes with Autoimmune Thyroiditis in Patients with Type 1 Diabetes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 3 countries.
Funding
Abstract
Autoimmune thyroid diseases (AITD) and Type 1 diabetes (T1D) frequently occur in the same individual pointing to a strong shared genetic susceptibility. Indeed, the co-occurrence of T1D and AITD in the same individual is classified as a variant of the autoimmune polyglandular syndrome type 3 (designated APS3v). Our aim was to identify new genes and mechanisms causing the co-occurrence of T1D + AITD (APS3v) in the same individual using a genome-wide approach. For our discovery set we analyzed 346 Caucasian APS3v patients and 727 gender and ethnicity matched healthy controls. Genotyping was performed using the Illumina Human660W-Quad.v1. The replication set included 185 APS3v patients and 340 controls. Association analyses were performed using the PLINK program, and pathway analyses were performed using the MAGENTA software. We identified multiple signals within the HLA region and conditioning studies suggested that a few of them contributed independently to the strong association of the HLA locus with APS3v. Outside the HLA region, variants in GPR103, a gene not suggested by previous studies of APS3v, T1D, or AITD, showed genome-wide significance (p < 5 × 10(-8)). In addition, a locus on 1p13 containing the PTPN22 gene showed genome-wide significant associations. Pathway analysis demonstrated that cell cycle, B-cell development, CD40, and CTLA-4 signaling were the major pathways contributing to the pathogenesis of APS3v. These findings suggest that complex mechanisms involving T-cell and B-cell pathways are involved in the strong genetic association between AITD and T1D.
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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.