Evidence map›Paper›PMID 22057235›Full record

ArticleNature genetics2011

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Gosia Trynka, Karen A Hunt, Nicholas A Bockett, Jihane Romanos, Vanisha Mistry, Agata Szperl, Sjoerd F Bakker, Maria Teresa Bardella, Leena Bhaw-Rosun, Gemma Castillejo and 57 more

Abstract read
In one paragraph

Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 495 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
495citing papers in PubMed, 11 pooled it
52.4field-weighted citation impact, top 1% 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

495 citing papers in PubMed, 11 syntheses or guidelines pooled it, 857 citations in OpenAlex.

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

67 authors at 18 institutions in 8 countries.

Gosia TrynkaGenetics Department, University Medical Center and University of Groningen, The Netherlands.
Karen A Hunt
Nicholas A Bockett
Jihane Romanos
Vanisha Mistry
Agata Szperl
Sjoerd F Bakker
Maria Teresa Bardella
Leena Bhaw-Rosun
Gemma Castillejo
Emilio G de la Concha
Rodrigo Coutinho de Almeida
Kerith-Rae M Dias
Cleo C van Diemen
Patrick C A Dubois
Richard H Duerr
Sarah Edkins
Lude Franke
Karin Fransen
Javier Gutierrez
Graham A R Heap
Barbara Hrdlickova
Sarah Hunt
Leticia Plaza Izurieta
Valentina Izzo
Leo A B Joosten
Cordelia Langford
Maria Cristina Mazzilli
Charles A Mein
Vandana Midah
Mitja Mitrovic
Barbara Mora
Marinita Morelli
Sarah Nutland
Concepción Núñez
Suna Onengut-Gumuscu
Kerra Pearce
Mathieu Platteel
Isabel Polanco
Simon Potter
Carmen Ribes-Koninckx
Isis Ricaño-Ponce
Stephen S Rich
Anna Rybak
José Luis Santiago
Sabyasachi Senapati
Ajit Sood
Hania Szajewska
Riccardo Troncone
Jezabel Varadé
Chris Wallace
Victorien M Wolters
Alexandra Zhernakova
Spanish Consortium on the Genetics of Coeliac Disease (CEGEC)
PreventCD Study Group
Wellcome Trust Case Control Consortium (WTCCC)
B K Thelma
Bozena Cukrowska
Elena Urcelay
Jose Ramon Bilbao
M Luisa Mearin
Donatella Barisani
Jeffrey C Barrett
Vincent Plagnol
Panos Deloukas
Cisca Wijmenga
David A van Heel
University Medical Center Groningen · NLQueen Mary University of London · GBInstituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESWellcome Sanger Institute · GBUniversity of Cambridge · GBUniversity of Delhi · INLeiden University · NLMedical University of Warsaw · PLRadboud University Nijmegen · NLChildren's Memorial Health Institute · PLGenomics England · GBHospital de Cruces · ESHospital Universitario La Paz · ESLeiden University Medical Center · NLOspedale Maggiore · ITUniversity of Maribor · SIUniversity of Naples Federico II · ITUniversity of Pittsburgh · US

Funding

Type 1 Diabetes Genetics ConsortiumU01DK062418 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI RICH, STEPHEN S. · 2002 to 2007
$59.8M
University of Pittsburgh Clinical and Translational Science InstituteUL1TR000005 · NCATS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E · 2012 to 2015
$50.8M
Replication of Association Signals Identified in Ulcerative Colitis GWASR01CA141743 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2009 to 2010
$600k
Medical Research Council G0000934Medical Research Council G0700545Medical Research Council G1001158Medical Research Council G1001158(95979)Medical Research Council G1001799NCATS NIH HHS UL1 TR000005NCI NIH HHS 1R01CA141743NCI NIH HHS R01 CA141743NIDDK NIH HHS U01 DK062418NIDDK NIH HHS U01-DK062418Wellcome Trust 068545/Z/02Wellcome Trust 076113/C/04/ZWellcome Trust 084743
6 · The paper itself

Abstract

Using variants from the 1000 Genomes Project pilot European CEU dataset and data from additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously associated with immune-mediated diseases in 12,041 individuals with celiac disease (cases) and 12,228 controls. We identified 13 new celiac disease risk loci reaching genome-wide significance, bringing the number of known loci (including the HLA locus) to 40. We found multiple independent association signals at over one-third of these loci, a finding that is attributable to a combination of common, low-frequency and rare genetic variants. Compared to previously available data such as those from HapMap3, our dense genotyping in a large sample collection provided a higher resolution of the pattern of linkage disequilibrium and suggested localization of many signals to finer scale regions. In particular, 29 of the 54 fine-mapped signals seemed to be localized to single genes and, in some instances, to gene regulatory elements. Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease.

Indexed as

Polymorphism, Single NucleotideCase-Control StudiesCeliac DiseaseChromosome MappingGene FrequencyGenetic LociGenome-Wide Association StudyHaplotypesHumansLinkage DisequilibriumRisk Factors

Identifiers

PMID22057235
PMCPMC3242065
OpenAlexW1975705143

What OpenQuestion holds

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LicenceTDM
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.