Evidence map›Paper›PMID 21326284›Full record

SynthesisEuropean journal of human genetics : EJHG2011

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.

Elisabet Einarsdottir, Marianna R Bevova, Alexandra Zhernakova, Alienke Monsuur, Lotta L E Koskinen, Ruben van't Slot, Chris Mulder, M Luisa Mearin, Ilma R Korponay-Szabo, Katri Kaukinen and 5 more

Open access · bronzeAbstract readMeta-AnalysisMulticenter Study
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 28% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Protein-protein interaction network of celiac disease.Gastroenterology and hepatology from bed to bench · 2016
    Article
  3. Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015
    Article
  4. Article
  5. Article
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

15 authors at 10 institutions in 4 countries.

Elisabet EinarsdottirDepartment of Medical Genetics and Research Program for Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. elisabet.einarsdottir@helsinki.fi
Marianna R Bevova
Alexandra Zhernakova
Alienke Monsuur
Lotta L E Koskinen
Ruben van't Slot
Chris Mulder
M Luisa Mearin
Ilma R Korponay-Szabo
Katri Kaukinen
Kalle Kurppa
Juha Kere
Markku Mäki
Cisca Wijmenga
Päivi Saavalainen
University Medical Center Utrecht · NLTampere University Hospital · FIUniversity of Helsinki · FIAmsterdam UMC Location VUmc · NLInstitute for Molecular Medicine Finland · FIKarolinska Institutet · SELeiden University · NLTampere University · FIUniversity Medical Center Groningen · NLUniversity of Debrecen · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. We performed fine mapping on 446 independent individuals with celiac disease and 641 controls of Dutch origin, testing 872 tagging SNPs in a 22 Mb region of chromosome 6. The 12 most promising SNPs were followed up in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families to identify risk variants in this region. Multiple markers in the region were significantly associated with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, were significantly associated with celiac disease in the Finnish population. The association to rs9391227 represents the strongest association signal found in the Finnish (P = 0.003, OR 0.66) as well as the combined Dutch, Finnish and Hungarian populations (P = 3.6 × 10(-5), OR 0.76). The rs9391227 is situated downstream of the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1. Two additional, independent, susceptibility variants in the 6q21-22 region were also found in a meta-analysis of the three populations. The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbors multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility.

Indexed as

Genetic Predisposition to DiseaseCeliac DiseaseChromosomes, Human, Pair 6Cohort StudiesCrohn DiseaseDiabetes Mellitus, Type 1FinlandGlutensHumansHungaryLinkage DisequilibriumNetherlandsPolymorphism, Single NucleotideUbiquitin-Protein LigasesWhite PeopleGlutensHACE1 protein, humanUbiquitin-Protein Ligases

Identifiers

PMID21326284
PMCPMC3110053
OpenAlexW2035802022

What OpenQuestion holds

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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.