ArticlePloS one2014
Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- CTLA-4 as a genetic determinant in autoimmune Addison's disease.Genes and immunity · 2015Pooled it
- Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.PloS one · 2015Trial
- The genetics of autoimmune Addison disease: past, present and future.Nature reviews. Endocrinology · 2022Review
- Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II.Hormones (Athens, Greece) · 2022Review
- Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins.Clinical medicine insights. Endocrinology and diabetes · 2021Article
- Article
- Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults.Journal of endocrinological investigation · 2019Review
- Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.Scientific reports · 2018Article
- Heritability of Addison's disease and prevalence of associated autoimmunity in a cohort of 112,100 Swedish twins.Endocrine · 2017Article
- Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease.The Journal of clinical endocrinology and metabolism · 2016Article
- A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.The Journal of clinical endocrinology and metabolism · 2016Article
- Analysis of cellular and humoral immune responses against cytomegalovirus in patients with autoimmune Addison's disease.Journal of translational medicine · 2016Article
- Western white pine SNP discovery and high-throughput genotyping for breeding and conservation applications.BMC plant biology · 2014Article
Corrections and comments
- Erratum issued
Authors and funding
36 authors at 17 institutions in 7 countries.
Funding
Abstract
backgroundGene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component to disease susceptibility has yet to be accounted for.
aimTo investigate the role of 19 candidate genes in AAD susceptibility in six European case-control cohorts.
methodsA sequential association study design was employed with genotyping using Sequenom iPlex technology. In phase one, 85 SNPs in 19 genes were genotyped in UK and Norwegian AAD cohorts (691 AAD, 715 controls). In phase two, 21 SNPs in 11 genes were genotyped in German, Swedish, Italian and Polish cohorts (1264 AAD, 1221 controls). In phase three, to explore association of GATA3 polymorphisms with AAD and to determine if this association extended to other autoimmune conditions, 15 SNPs in GATA3 were studied in UK and Norwegian AAD cohorts, 1195 type 1 diabetes patients from Norway, 650 rheumatoid arthritis patients from New Zealand and in 283 UK Graves' disease patients. Meta-analysis was used to compare genotype frequencies between the participating centres, allowing for heterogeneity.
resultsWe report significant association with alleles of two STAT4 markers in AAD cohorts (rs4274624: P = 0.00016; rs10931481: P = 0.0007). In addition, nominal association of AAD with alleles at GATA3 was found in 3 patient cohorts and supported by meta-analysis. Association of AAD with CYP27B1 alleles was also confirmed, which replicates previous published data. Finally, nominal association was found at SNPs in both the NF-κB1 and IL23A genes in the UK and Italian cohorts respectively.
conclusionsVariants in the STAT4 gene, previously associated with other autoimmune conditions, confer susceptibility to AAD. Additionally, we report association of GATA3 variants with AAD: this adds to the recent report of association of GATA3 variants with rheumatoid arthritis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.