Evidence map›Paper›PMID 20694011›Full record

ArticleNature genetics2010

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.

Ricardo C Ferreira, Qiang Pan-Hammarström, Robert R Graham, Vesela Gateva, Gumersindo Fontán, Annette T Lee, Ward Ortmann, Elena Urcelay, Miguel Fernández-Arquero, Concepción Núñez and 9 more

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In one paragraph

Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 5 pooled it
6.5field-weighted citation impact, top 3% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

72 citing papers in PubMed, 5 syntheses or guidelines pooled it, 152 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Immunoglobulin a Deficiency in Coeliac Disease: A Scoping Review.United European gastroenterology journal · 2026
    Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Autoimmunity in Primary Immunodeficiencies (PID).Clinical reviews in allergy & immunology · 2023
    Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Frontiers in genetics · 2021
    Article
  19. Article
  20. Review

12 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 6 institutions in 5 countries.

Ricardo C FerreiraGenentech, Inc., South San Francisco, California, USA.
Qiang Pan-Hammarström
Robert R Graham
Vesela Gateva
Gumersindo Fontán
Annette T Lee
Ward Ortmann
Elena Urcelay
Miguel Fernández-Arquero
Concepción Núñez
Gudmundur Jorgensen
Björn R Ludviksson
Sinikka Koskinen
Katri Haimila
Hilary F Clark
Lars Klareskog
Peter K Gregersen
Timothy W Behrens
Lennart Hammarström
Hospital Clínico San Carlos · ESKarolinska University Hospital · SEFinnish Red Cross · FINorthwell Health · USUniversity of Iceland · ISHospital Universitario La Paz · ES

Funding

Systemic Lupus Erythematosus and Ulcerative Colitis StudyU19AI067152 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DALY, MARK JOSEPH · 2005 to 2009
$10.1M
Yale Microarray Center for Research the Nervous SystemU24NS051869 · NINDS · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2005 to 2009
$6.9M
GENE MAPPING IN WOMEN WITH SYSTEMIC LUPUS ERYTHEMATOSUSR01AR043274 · NIAMS · UNIVERSITY OF MINNESOTA TWIN CITIES · PI SIVILS, KATHY L. · 1996 to 2010
$6.5M
Molecular Genetic Pathogenesis of Intracranial AneurysmsR01NS057756 · NINDS · YALE UNIVERSITY · PI GUNEL, MURAT · 2007 to 2016
$5.3M
European Research Council 242551NIAID NIH HHS U19 AI067152NIAMS NIH HHS AR043274NINDS NIH HHS R01NS057756NINDS NIH HHS U24 NS051869
6 · The paper itself

Abstract

To understand the genetic predisposition to selective immunoglobulin A deficiency (IgAD), we performed a genome-wide association study in 430 affected individuals (cases) from Sweden and Iceland and 1,090 ethnically matched controls, and we performed replication studies in two independent European cohorts. In addition to the known association of HLA with IgAD, we identified association with a nonsynonymous variant in IFIH1 (rs1990760G>A, P = 7.3 x 10(-10)) which was previously associated with type 1 diabetes and systemic lupus erythematosus. Variants in CLEC16A, another known autoimmunity locus, showed suggestive evidence for association (rs6498142C>G, P = 1.8 x 10(-7)), and 29 additional loci were identified with P < 5 x 10(-5). A survey in IgAD of 118 validated non-HLA autoimmunity loci indicated a significant enrichment for association with autoimmunity loci as compared to non-autoimmunity loci (P = 9.0 x 10(-4)) or random SNPs across the genome (P < 0.0001). These findings support the hypothesis that autoimmune mechanisms may contribute to the pathogenesis of IgAD.

Indexed as

AllelesAutoimmune DiseasesAutoimmunityCase-Control StudiesDEAD-box RNA HelicasesFinlandGenetic LinkageGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIcelandIgA DeficiencyInterferon-Induced Helicase, IFIH1RiskSpainSwedenDEAD-box RNA HelicasesIFIH1 protein, humanInterferon-Induced Helicase, IFIH1

Identifiers

PMID20694011
OpenAlexW1992587366

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.