Newly identified genetic risk variants for celiac disease related to the immune response

Nature Genetics

Volumn 40, Issue 4, 2008, Pages 395-402

  Hunt, Karen A ^a   Zhernakova, Alexandra ^b   Turner, Graham ^c   Heap, Graham A R ^a   Franke, Lude ^b   Bruinenberg, Marcel ^d   Romanos, Jihane ^d   Dinesen, Lotte C ^e   Ryan, Anthony W ^c   Panesar, Davinder ^a   Gwilliam, Rhian ^f   Takeuchi, Fumihiko ^f   McLaren, William M ^f   Holmes, Geoffrey K T ^g   Howdle, Peter D ^h   Walters, Julian R F ⁱ   Sanders, David S ^j   Playford, Raymond J ^a   Trynka, Gosia ^d   Mulder, Chris J J ^k   Mearin, M Luisa ^k,l   Verbeek, Wieke H M ^k   Trimble, Valerie ^c   Stevens, Fiona M ^m   O'Morain, Colm ^c   Kennedy, Nicholas P ^c   Kelleher, Dermot ^c   Pennington, Daniel J ^a   Strachan, David P ⁿ   McArdle, Wendy L ^o   Mein, Charles A ^a   Wapenaar, Martin C ^d   Deloukas, Panos ^f   McGinnis, Ralph ^f   McManus, Ross ^c   Wijmenga, Cisca ^b,d   Van Heel, David A ^a   more..

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c TRINITY COLLEGE DUBLIN   (Ireland)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^g DERBYSHIRE ROYAL INFIRMARY   (United Kingdom)

^h ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

ⁱ HAMMERSMITH HOSPITAL   (United Kingdom)

^j ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^k VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m NATIONAL UNIVERSITY OF IRELAND   (Ireland)

ⁿ ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^o UNIVERSITY OF BRISTOL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR CCR3; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; INTERLEUKIN 12; INTERLEUKIN 18; INTERLEUKIN 2; INTERLEUKIN 21; PROTEIN SH2; RGS PROTEIN;

ARTICLE; CELIAC DISEASE; CELL MIGRATION; CONTROLLED STUDY; DENDRITIC CELL; DISEASE PREDISPOSITION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE;

ANIMALS; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CELIAC DISEASE; CHROMOSOME MAPPING; COHORT STUDIES; DIABETES MELLITUS, TYPE 1; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HLA-DQ ANTIGENS; HUMANS; INTERLEUKIN-12 SUBUNIT P35; INTERLEUKIN-18 RECEPTOR BETA SUBUNIT; LINKAGE DISEQUILIBRIUM; MALE; MICE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CCR3; RGS PROTEINS; RISK FACTORS; RNA, MESSENGER; TISSUE DISTRIBUTION;

EID: 41349103493     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.102     Document Type: Article

References (29)

1. van Heel, D.A. & West, J. Recent advances in coeliac disease. Gut 55, 1037-1046 (2006).
2. van Heel, D.A. et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat. Genet. 39, 827-829 (2007).
3. Skol, A.D., Scott, L.J., Abecasis, G.R. & Boehnke, M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet. 38, 209-213 (2006).
4. Chanock, S.J. et al. Replicating genotype-phenotype associations. Nature 447, 655-660 (2007).
5. Clarke, G.M., Carter, K.W., Palmer, L.J., Morris, A.P. & Cardon, L.R. Fine mapping versus replication in whole-genome association studies. Am. J. Hum. Genet. 81, 995-1005 (2007).
6. de Bakker, P.I. et al. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat. Genet. 38, 1166-1172 (2006).
7. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661-678 (2007).
8. Plenge, R.M. et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat. Genet. 39, 1477-1482 (2007).
9. Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
10. Su, A.I. et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc. Natl. Acad. Sci. USA 101, 6062-6067 (2004).
11. Todd, J.A. et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat. Genet. 39, 857-864 (2007).
12. Yamanouchi, J. et al. Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity. Nat. Genet. 39, 329-337 (2007).
13. Zhernakova, A. et al. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am. J. Hum. Genet. 81, 1284-1288 (2007).
14. Han, S.B. et al. Rgs1 and Gnai2 regulate the entrance of B lymphocytes into lymph nodes and B cell motility within lymph node follicles. Immunity 22, 343-354 (2005).
15. Shi, G.X., Harrison, K., Han, S.B., Moratz, C. & Kehrl, J.H. Toll-like receptor signaling alters the expression of regulator of G protein signaling proteins in dendritic cells: implications for G protein-coupled receptor signaling. J. Immunol. 172, 5175-5184 (2004).
16. Pennington, D.J. et al. The inter-relatedness and interdependence of mouse T cell receptor gammadelta. and alphabeta. cells. Nat. Immunol. 4, 991-998 (2003).
17. Hue, S. et al. A direct role for NKG2D/MICA interaction in villous atrophy during celiac disease. Immunity 21, 367-377 (2004).
18. Salvati, V.M. et al. Interleukin 18 and associated markers of T helper cell type 1 activity in coeliac disease. Gut 50, 186-190 (2002).
19. Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004).
20. Mao, M. et al. T lymphocyte activation gene identification by coregulated expression on DNA microarrays. Genomics 83, 989-999 (2004).
21. Li, Y., He, X., Schembri-King, J., Jakes, S. & Hayashi, J. Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. J. Immunol. 164, 5199-5206 (2000).
22. Velazquez, L. et al. Cytokine signaling and hematopoietic homeostasis are disrupted in Lnk-deficient mice. J. Exp. Med. 195, 1599-1611 (2002).
23. Zeggini, E. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316, 1336-1341 (2007).
24. Abraham, C. & Cho, J.H. Functional consequences of NOD2 (CARD15) mutations. Inflamm. Bowel Dis. 12, 641-650 (2006).
25. Rieck, M. et al. Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. J. Immunol. 179, 4704-4710 (2007).
26. Purcell, S. et al. PLINK: a tool set for whole-genome association and population-ased linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
27. Howard, T.D. et al. Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am. J. Hum. Genet. 70, 230-236 (2002).
28. Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
29. Rosenthal, R. Meta-Analytic Procedures for Social Research (Sage Publications, Newbury Park, California, 1991).