Student or educator? Sign up with your school email and get 6 months of Pro free.
CoChat
Sign Up
Cited by 832

The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.

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

Open access
Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), Trynka, Gosia, PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC), Hunt, Karen A, Bockett, Nicholas A, Romanos, Jihane, Mistry, Vanisha, Szperl, Agata, Bakker, Sjoerd F, Bardella, Maria Teresa, Bhaw-Rosun, Leena, Castillejo, Gemma, de la Concha, Emilio G, de Almeida, Rodrigo Coutinho, Dias, Kerith-Rae M, van Diemen, Cleo C, Dubois, Patrick C A, Duerr, Richard H, Edkins, Sarah, Franke, Lude, Fransen, Karin, Gutierrez, Javier, Heap, Graham A R, Hrdlickova, Barbara, Hunt, Sarah, Izurieta, Leticia Plaza, Izzo, Valentina, Joosten, Leo A B, Langford, Cordelia, Mazzilli, Maria Cristina, Mein, Charles A, Midah, Vandana, Mitrovic, Mitja, Mora, Barbara, Morelli, Marinita, Nutland, Sarah, Núñez, Concepción, Onengut-Gumuscu, Suna, Pearce, Kerra, Platteel, Mathieu, Polanco, Isabel, Potter, Simon, Ribes-Koninckx, Carmen, Ricaño-Ponce, Isis, Rich, Stephen S, Rybak, Anna, Santiago, José Luis, Senapati, Sabyasachi, Sood, Ajit, Szajewska, Hania, Troncone, Riccardo, Varadé, Jezabel, Wallace, Chris, Wolters, Victorien M, Zhernakova, Alexandra, Thelma, B K, Cukrowska, Bozena, Urcelay, Elena, Bilbao, Jose Ramon, Mearin, M Luisa, Barisani, Donatella, Barrett, Jeffrey C, Plagnol, Vincent, Deloukas, Panos, Wijmenga, Cisca, van Heel, David A·2011·Nature Genetics
DOI 10.1038/ng.998
Open this paper in CoChat — free account

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.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1038/ng.998

Cites

41 of 41 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 41 references

Cited by

See all 832

Metadata

Authors
Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), Trynka, G., PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC), Hunt, K. A., Bockett, N. A., Romanos, J., Mistry, V., Szperl, A., Bakker, S. F., Bardella, M. T., Bhaw-Rosun, L., Castillejo, G., de la Concha, E. G., de Almeida, R. C., Dias, K.-R. M., van Diemen, C. C., Dubois, P. C. A., Duerr, R. H., Edkins, S., Franke, L., Fransen, K., Gutierrez, J., Heap, G. A. R., Hrdlickova, B., Hunt, S., Izurieta, L. P., Izzo, V., Joosten, L. A. B., Langford, C., Mazzilli, M. C., Mein, C. A., Midah, V., Mitrovic, M., Mora, B., Morelli, M., Nutland, S., Núñez, C., Onengut-Gumuscu, S., Pearce, K., Platteel, M., Polanco, I., Potter, S., Ribes-Koninckx, C., Ricaño-Ponce, I., Rich, S. S., Rybak, A., Santiago, J. L., Senapati, S., Sood, A., Szajewska, H., Troncone, R., Varadé, J., Wallace, C., Wolters, V. M., Zhernakova, A., Thelma, B. K., Cukrowska, B., Urcelay, E., Bilbao, J. R., Mearin, M. L., Barisani, D., Barrett, J. C., Plagnol, V., Deloukas, P., Wijmenga, C., & van Heel, D. A.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2011-11-06
Volume
43
Issue
12
Pages
1193-1201
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.998
OpenAlex
W1975705143
Cited by
832
References
41
FWCI
68.49
Type
journal article
Language
en
Open access
green

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. https://app.cochat.ai/papers/10.1038/ng.998
The paper
Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), Trynka, G., PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC), Hunt, K. A., Bockett, N. A., Romanos, J., Mistry, V., Szperl, A., Bakker, S. F., Bardella, M. T., Bhaw-Rosun, L., Castillejo, G., de la Concha, E. G., de Almeida, R. C., Dias, K.-R. M., van Diemen, C. C., Dubois, P. C. A., Duerr, R. H., . . . van Heel, D. A. (2011). Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nature Genetics. https://doi.org/10.1038/ng.998

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.