Evidence map›Paper›PMID 25052311›Full record

ArticleEuropean journal of human genetics : EJHG2015

Evaluation of European coeliac disease risk variants in a north Indian population.

Sabyasachi Senapati, Javier Gutierrez-Achury, Ajit Sood, Vandana Midha, Agata Szperl, Jihane Romanos, Alexandra Zhernakova, Lude Franke, Santos Alonso, B K Thelma and 2 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
1.8field-weighted citation impact, top 17% 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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.

  1. Celiac disease poses significant risk in developing depression, anxiety, headache, epilepsy, panic disorder, dysthymia: A meta-analysis.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2021
    Pooled it
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  5. Assessment of the contribution ofJournal of genetics · 2024
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  14. Therapeutic approaches for celiac disease.Best practice & research. Clinical gastroenterology · 2015
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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

12 authors at 5 institutions in 4 countries.

Sabyasachi SenapatiDepartment of Genetics, University of Delhi South Campus, New Delhi, India.
Javier Gutierrez-AchuryDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
Ajit SoodDepartment of Gastroenterology, Dayanand Medical College and Hospital, Ludhiana, India.
Vandana MidhaDepartment of Medicine, Dayanand Medical College and Hospital, Ludhiana, India.
Agata SzperlDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
Jihane RomanosDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
Alexandra ZhernakovaDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
Lude FrankeDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
Santos AlonsoDepartment of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country, Leioa, Spain.
B K ThelmaDepartment of Genetics, University of Delhi South Campus, New Delhi, India.
Cisca WijmengaDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
Gosia TrynkaDepartment of Genetics, University of Groningen, University Medical Hospital Groningen, Groningen, The Netherlands.
University Medical Center Groningen · NLDayanand Medical College & Hospital · INUniversity of Delhi · INUniversity of Groningen · NLUniversity of the Basque Country · ES

Funding

European Research Council 322698
6 · The paper itself

Abstract

Studies in European populations have contributed to a better understanding of the genetics of complex diseases, for example, in coeliac disease (CeD), studies of over 23 000 European samples have reported association to the HLA locus and another 39 loci. However, these associations have not been evaluated in detail in other ethnicities. We sought to better understand how disease-associated loci that have been mapped in Europeans translate to a disease risk for a population with a different ethnic background. We therefore performed a validation of European risk loci for CeD in 497 cases and 736 controls of north Indian origin. Using a dense-genotyping platform (Immunochip), we confirmed the strong association to the HLA region (rs2854275, P=8.2 × 10(-49)). Three loci showed suggestive association (rs4948256, P=9.3 × 10(-7), rs4758538, P=8.6 × 10(-5) and rs17080877, P=2.7 × 10(-5)). We directly replicated five previously reported European variants (P<0.05; mapping to loci harbouring FASLG/TNFSF18, SCHIP1/IL12A, PFKFB3/PRKCQ, ZMIZ1 and ICOSLG). Using a transferability test, we further confirmed association at PFKFB3/PRKCQ (rs2387397, P=2.8 × 10(-4)) and PTPRK/THEMIS (rs55743914, P=3.4 × 10(-4)). The north Indian population has a higher degree of consanguinity than Europeans and we therefore explored the role of recessively acting variants, which replicated the HLA locus (rs9271850, P=3.7 × 10(-23)) and suggested a role of additional four loci. To our knowledge, this is the first replication study of CeD variants in a non-European population.

Indexed as

AllelesCarrier ProteinsCeliac DiseaseChromosome MappingFas Ligand ProteinGenetic LociGenetic Predisposition to DiseaseGenotyping TechniquesHumansIndiaInducible T-Cell Co-Stimulator LigandInterleukin-12 Subunit p35IsoenzymesPhosphofructokinase-2Polymorphism, Single NucleotideProtein Kinase CCarrier ProteinsFASLG protein, humanFas Ligand ProteinICOSLG protein, humanIL12A protein, humanInducible T-Cell Co-Stimulator LigandInterleukin-12 Subunit p35IsoenzymesPFKFB3 protein, humanPhosphofructokinase-2PRKCQ protein, humanProtein Kinase CProtein Kinase C-thetaSCHIP1 protein, humanTNFSF18 protein, humanTranscription FactorsTumor Necrosis FactorsZMIZ1 protein, human

Identifiers

PMID25052311
PMCPMC4666579
OpenAlexW1990691820

What OpenQuestion holds

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LicenceCC BY-NC-SA
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.