期刊
NATURE GENETICS
卷 42, 期 4, 页码 295-U42出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.543
关键词
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资金
- Wellcome Trust [084743, 085475]
- Coeliac Disease Consortium
- Dutch Government [BSIK03009]
- Netherlands Organisation for Scientific Research (NWO) [918.66.620]
- Italian Ministry of Healthy [RC2009]
- Prinses Beatrix Fonds
- Adessium foundation
- Amyotrophic Lateral Sclerosis Association
- Netherlands Genomics Initiative [93519031]
- NWO (ZonMW) [916.10.135]
- MRC [G0700545]
- Royal Netherlands Academy of Arts and Sciences
- COPACETIC (EU) [201379]
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- National Institute of Allergy and Infectious Diseases (NIAID)
- National Human Genome Research Institute (NHGRI)
- National Institute of Child Health and Human Development (NICHD)
- Juvenile Diabetes Research Foundation International (JDRF)
- Department of Health via the National Institute for Health Research (NIHR)
- NIH [DK050678, DK081645, NS058980, DK57892, DK071003]
- EU Commission [MEXT-CT-2005-025270]
- Academy of Finland [OTKA 61868]
- University of Helsinki Funds
- Tampere University Hospital
- Foundation of Pediatric Research
- Sigrid Juselius Foundation
- Hungarian Academy of Sciences [2006TKI247]
- UMC Cooperation [6/06/2006/NDON]
- Science Foundation Ireland [CP08/0213]
- Irish Health Research Board
- [U01 DK062418]
- Medical Research Council [G0700545] Funding Source: researchfish
- MRC [G0700545] Funding Source: UKRI
We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P-GWAS < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P-combined < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression.
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