ArticlePloS one2012
Novel associations for hypothyroidism include known autoimmune risk loci.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 9 of them syntheses 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
91 citing papers in PubMed, 9 syntheses or guidelines pooled it, 152 citations in OpenAlex.
- Genome-wide association studies of antidepressant class response and treatment-resistant depression.Translational psychiatry · 2020Pooled it
- Pooled it
- Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.Nature communications · 2018Pooled it
- Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition.Molecular psychiatry · 2018Pooled it
- Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity.Nature communications · 2017Pooled it
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.Nature genetics · 2016Pooled it
- Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.Nature genetics · 2014Pooled it
- Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.PLoS genetics · 2014Pooled it
- A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.PLoS genetics · 2013Pooled it
- Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease.Scientific reports · 2018Trial
- Common single nucleotide polymorphisms in genes related to immune function and risk of papillary thyroid cancer.PloS one · 2013Trial
- Independent Effects of Hypothyroidism and Obesity on Endometrial Cancer Risk Revealed by Mendelian Randomisation.Biomedicines · 2025Article
- Comprehensive characterization of pathogenic missense CTRP6 variants and their association with cancer.BMC cancer · 2025Article
- Immune checkpoint inhibitor-induced thyroiditis and its potential mechanisms.Frontiers in endocrinology · 2025Review
- Autoimmune side-effect of immunotherapy in lung cancer treatment revealed from large-scale cohort.medRxiv : the preprint server for health sciences · 2024Article
- Genetic interactions and pleiotropy in metabolic diseases: Insights from a comprehensive GWAS analysis.Journal of cellular and molecular medicine · 2024Article
- Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.Nature communications · 2024Article
- Revealing the genetic complexity of hypothyroidism: integrating complementary association methods.Frontiers in genetics · 2024Article
- Investigation of common genetic risk factors between thyroid traits and breast cancer.Human molecular genetics · 2023Article
- Epidemiology, Types, Causes, Clinical Presentation, Diagnosis, and Treatment of Hypothyroidism.Cureus · 2023Review
31 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypothyroidism is the most common thyroid disorder, affecting about 5% of the general population. Here we present the current largest genome-wide association study of hypothyroidism, in 3,736 cases and 35,546 controls. Hypothyroidism was assessed via web-based questionnaires. We identify five genome-wide significant associations, three of which are well known to be involved in a large spectrum of autoimmune diseases: rs6679677 near PTPN22, rs3184504 in SH2B3, and rs2517532 in the HLA class I region (p-values 2.8·10(-13), 2.6·10(-12), and 1.3·10(-8), respectively). We also report associations with rs4915077 near VAV3 (p-value 7.5·10(-10)) and rs925489 near FOXE1 (p value 2.4·10(-19)). VAV3 is involved in immune function, and FOXE1 and PTPN22 have previously been associated with hypothyroidism. Although the HLA class I region and SH2B3 have previously been linked with a number of autoimmune diseases, this is the first report of their association with thyroid disease. The VAV3 association is also novel. We also show suggestive evidence of association for hypothyroidism with a SNP in the HLA class II region (independent of the other HLA association) as well as SNPs in CAPZB, PDE8B, and CTLA4. CAPZB and PDE8B have been linked to TSH levels and CTLA4 to a variety of autoimmune diseases. These results suggest heterogeneity in the genetic etiology of hypothyroidism, implicating genes involved in both autoimmune disorders and thyroid function. Using a genetic risk profile score based on the top association from each of the five genome-wide significant regions in our study, the relative risk between the highest and lowest deciles of genetic risk is 2.0.
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.