SynthesisNature genetics2016
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 5 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 5 pooled it
5.0field-weighted citation impact, top 4% of its field
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
48 citing papers in PubMed, 5 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.Human genetics · 2026Pooled it
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- Shared genetic risk factors and causal association between psoriasis and coronary artery disease.Nature communications · 2022Pooled it
- Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.Nature communications · 2020Pooled it
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nature genetics · 2017Pooled it
- Immunoglobulin a Deficiency in Coeliac Disease: A Scoping Review.United European gastroenterology journal · 2026Article
- Large-scale GWAS meta-analysis of serum antibody levels in healthy individuals reveals distinct genetic architectures.Genes and immunity · 2026Article
- Genetic mapping across autoimmune diseases reveals shared associations and mechanisms.Nature genetics · 2024Article
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- Article
- Primary ovarian insufficiency consequence of autoimmune diseases: a bidirectional two-sample Mendelian randomization study.Frontiers in endocrinology · 2024Article
- Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.Frontiers in immunology · 2024Article
- Mapping genetic effects on cell type-specific chromatin accessibility and annotating complex immune trait variants using single nucleus ATAC-seq in peripheral blood.PLoS genetics · 2023Article
- Review
- Autoimmunity and Carcinogenesis: Their Relationship under the Umbrella of Autophagy.Biomedicines · 2023Review
- SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis.Frontiers in immunology · 2023Review
- Celiac Disease and the Susceptibility of COVID-19 and the Risk of Severe COVID-19: A Mendelian Randomization Study.Clinical and translational gastroenterology · 2022Observational
- Article
- A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections.Scientific reports · 2022Article
- Sequence complementarity between human noncoding RNAs and SARS-CoV-2 genes: What are the implications for human health?Biochimica et biophysica acta. Molecular basis of disease · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 10 institutions in 6 countries.
Paola G BronsonDepartment of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
Diana ChangDepartment of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
Tushar BhangaleDepartment of Bioinformatics and Computational Biology, Genentech, Inc., South San Francisco, California, USA.
Michael F SeldinDepartment of Biochemistry, School of Medicine, University of California, Davis, Davis, California, USA.
Ward OrtmannDepartment of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
Ricardo C FerreiraJuvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Cambridge, UK.
Elena UrcelayDepartment of Immunology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, IdISSC, Madrid, Spain.
Luis Fernández PereiraDepartment of Immunology, Hospital San Pedro de Alcántara, Cáceres, Spain.
Javier MartinInstituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.
Alessandro PlebaniPediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
Vassilios LougarisPediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
Vanda FrimanDepartment of Infectious Diseases, University of Gothenburg, Gothenburg, Sweden.
Tomáš FreibergerMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
Jiri LitzmanDepartment of Clinical Immunology and Allergy, Faculty of Medicine, Masaryk University, St. Anne's University Hospital, Brno, Czech Republic.
Vojtech ThonDepartment of Clinical Immunology and Allergy, Faculty of Medicine, Masaryk University, St. Anne's University Hospital, Brno, Czech Republic.
Qiang Pan-HammarströmDivision of Clinical Immunology and Transfusion Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-1990-8804
Lennart HammarströmDivision of Clinical Immunology and Transfusion Medicine, Karolinska Institutet, Stockholm, Sweden.
Robert R GrahamDepartment of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
Timothy W BehrensDepartment of Human Genetics, Genentech, Inc., South San Francisco, California, USA.
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITKarolinska Institutet · SEMasaryk University · CZCentral European Institute of Technology · CZHospital San Pedro de Alcántara · ESInstituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESInstituto de Parasitología y Biomedicina "López - Neyra" · ESJuvenile Diabetes Research Foundation · GBUniversity of California, Davis · USUniversity of Gothenburg · SE
Funding
Systemic Lupus Erythematosus and Ulcerative Colitis StudyU19AI067152 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HAUSER, STEPHEN L · 2005 to 2009
$10.1MYale Microarray Center for Research the Nervous SystemU24NS051869 · NINDS · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2005 to 2009
$6.9MGENE MAPPING IN WOMEN WITH SYSTEMIC LUPUS ERYTHEMATOSUSR01AR043274 · NIAMS · UNIVERSITY OF MINNESOTA TWIN CITIES · PI SIVILS, KATHY L. · 1996 to 2010
$6.5MMolecular Genetic Pathogenesis of Intracranial AneurysmsR01NS057756 · NINDS · YALE UNIVERSITY · PI GUNEL, MURAT · 2007 to 2016
$5.3MEuropean Research Council 242551NIAID NIH HHS U19 AI067152NIAMS NIH HHS R01 AR043274NINDS NIH HHS R01 NS057756NINDS NIH HHS U24 NS051869
Abstract
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10
Indexed as
Genetic VariationAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAutophagy-Related ProteinsCohort StudiesGene Regulatory NetworksGenome-Wide Association StudyHumansIgA DeficiencyLectins, C-TypeMonosaccharide Transport ProteinsRNA, Long NoncodingAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAHI1 protein, humanAMBRA1 protein, humanATG13 protein, humanAutophagy-Related ProteinsCLEC16A protein, humanLectins, C-TypeMonosaccharide Transport ProteinsPVT1 long-non-coding RNA, humanRNA, Long Noncoding
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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.