Genetic studies of Crohn's disease: Past, present and future

Best Practice and Research: Clinical Gastroenterology

Volumn 28, Issue 3, 2014, Pages 373-386

  Liu, Jimmy Z ^a   Anderson, Carl A ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

Crohn's; Genetics; Genomics; Genotyping; Sequencing

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15;

ARTICLE; CROHN DISEASE; ENVIRONMENTAL FACTOR; FAMILY; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE MAP; HEREDITY; HERITABILITY; HETEROZYGOTE; HUMAN; HUMAN GENOME PROJECT; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; NOD2 GENE; PHENOTYPIC VARIATION; PREDICTION; PURIFYING SELECTION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TWINS;

CROHN'S; GENETICS; GENOMICS; GENOTYPING; SEQUENCING;

CROHN DISEASE; DISEASE SUSCEPTIBILITY; GENETIC LINKAGE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMANS; NOD2 SIGNALING ADAPTOR PROTEIN; RISK FACTORS; TWIN STUDIES AS TOPIC;

EID: 84902292435     PISSN: 15216918     EISSN: 15321916     Source Type: Journal    
DOI: 10.1016/j.bpg.2014.04.009     Document Type: Review

References (108)

1. E.V. Loftus Jr. Clinical epidemiology of inflammatory bowel disease: Incidence, prevalence, and environmental influences Gastroenterology 126 2004 1504 1517
2. B. Khor, A. Gardet, and R.J. Xavier Genetics and pathogenesis of inflammatory bowel disease Nature 474 2011 307 317
3. L. Halme, P. Paavola-Sakki, U. Turunen, M. Lappalainen, M. Farkkila, and K. Kontula Family and twin studies in inflammatory bowel disease World J Gastroenterol 12 2006 3668 3672
4. S. Shivananda, J. Lennard-Jones, R. Logan, N. Fear, A. Price, and L. Carpenter et al. Incidence of inflammatory bowel disease across Europe: is there a difference between north and south? Results of the European Collaborative Study on Inflammatory Bowel Disease (EC-IBD) Gut 39 1996 690 697
5. R.A. Hiatt, and L. Kaufman Epidemiology of inflammatory bowel disease in a defined northern California population West J Med 149 1988 541 546
6. F. Farrokhyar, E.T. Swarbrick, and E.J. Irvine A critical review of epidemiological studies in inflammatory bowel disease Scand J Gastroenterol 36 2001 2 15
7. C.G. Mathew, and C.M. Lewis Genetics of inflammatory bowel disease: progress and prospects. Hum Mol Genet 13 Spec No 1 2004 R161 R168
8. S.R. Brant Update on the heritability of inflammatory bowel disease: the importance of twin studies Inflamm Bowel Dis 17 2011 1 5
9. E. Lander, and L. Kruglyak Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results Nat Genet 11 1995 241 247
10. L. Tsui, M. Buchwald, D. Barker, J. Braman, R. Knowlton, and J. Schumm et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker Science 230 1985 1054 1057
11. J.F. Gusella, N.S. Wexler, P.M. Conneally, S.L. Naylor, M.A. Anderson, and R.E. Tanzi et al. A polymorphic DNA marker genetically linked to Huntington's disease Nature 306 1983 234 238
12. D.A. van Heel, S.A. Fisher, A. Kirby, M.J. Daly, J.D. Rioux, and C.M. Lewis et al. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs Hum Mol Genet 13 2004 763 770
13. J.P. Hugot, P. Laurent-Puig, C. Gower-Rousseau, J.M. Olson, J.C. Lee, and L. Beaugerie et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16 Nature 379 1996 821 823
14. S.R. Brant, Y. Fu, C.T. Fields, R. Baltazar, G. Ravenhill, and M.R. Pickles et al. American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12 Gastroenterology 115 1998 1056 1061
15. J.H. Cho, D.L. Nicolae, L.H. Gold, C.T. Fields, M.C. LaBuda, and P.M. Rohal et al. Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1 Proc Natl Acad Sci 95 1998 7502 7507
16. M.M. Mirza, J. Lee, D. Teare, J.P. Hugot, P. Laurent-Puig, and J.F. Colombel et al. Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis J Med Genet 35 1998 218 221
17. J.D. Ohmen, H.-Y. Yang, K.K. Yamamoto, H.-Y. Zhao, Y. Ma, and L.G. Bentley et al. Susceptibility Locus for Inflammatory Bowel Disease on Chromosome 16 has a Role in Crohn's disease, but Not in Ulcerative Colitis Hum Mol Gen 5 1996 1679 1683
18. M.E. Curran, K.F. Lau, J. Hampe, S. Schreiber, S. Bridger, and A.J.S. Macpherson§ et al. Genetic analysis of inflammatory bowel disease in a large European cohort supports linkage to chromosomes 12 and 16 Gastroenterology 115 1998 1066 1071
19. J.A. Cavanaugh, D.F. Callen, S.R. Wilson, P.M. Stanford, M.E. Sraml, and M. Gorska et al. Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16 Ann Hum Genet 62 1998 291 298
20. J. Cavanaugh International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: crohn disease and chromosome 16 Am J Hum Genet 68 2001 1165 1171
21. J.-P. Hugot, M. Chamaillard, H. Zouali, S. Lesage, J.-P. Cezard, and J. Belaiche et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease Nature 411 2001 599 603
22. Y. Ogura, D.K. Bonen, N. Inohara, D.L. Nicolae, F.F. Chen, and R. Ramos et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease Nature 411 2001 603 606
23. A.P. Cuthbert, S.A. Fisher, M.M. Mirza, K. King, J. Hampe, and P.J.P. Croucher et al. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease Gastroenterology 122 2002 867 874
24. S. Vermeire, G. Wild, K. Kocher, J. Cousineau, L. Dufresne, and A. Bitton et al. CARD15 Genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure Am J Hum Genet 71 2002 74 83
25. J. Hampe, A. Cuthbert, P.J.P. Croucher, M.M. Mirza, S. Mascheretti, and S. Fisher et al. Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations Lancet 357 2001 1925 1928
26. N. Risch, and K. Merikangas The future of genetic studies of complex human diseases Science 273 1996 1516 1517
27. R.S. Spielman, R.E. McGinnis, and W.J. Ewens Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM) Am J Hum Genet 52 1993 506 516
28. M. Stoll, B. Corneliussen, C.M. Costello, G.H. Waetzig, B. Mellgard, and W.A. Koch et al. Genetic variation in DLG5 is associated with inflammatory bowel disease Nat Genet 36 2004 476 480
29. K. Yamazaki, M. Takazoe, T. Tanaka, T. Ichimori, S. Saito, and A. Iida et al. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease J Hum Genet 49 2004 664 668
30. A.T. Gewirtz, M. Vijay-Kumar, S.R. Brant, R.H. Duerr, D.L. Nicolae, and J.H. Cho Dominant-negative TLR5 polymorphism reduces adaptive immune response to flagellin and negatively associates with Crohn's disease Am J Physiol Gastrointest Liver Physiol 290 2006 G1157 G1163
31. S. Brand, T. Staudinger, F. Schnitzler, S. Pfennig, K. Hofbauer, and J. Dambacher et al. The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease Inflamm Bowel Dis 11 2005 645 652
32. J.P. Ioannidis, E.E. Ntzani, T.A. Trikalinos, and D.G. Contopoulos-Ioannidis Replication validity of genetic association studies Nat Genet 29 2001 306 309
33. H.M. Colhoun, P.M. McKeigue, and G. Davey Smith Problems of reporting genetic associations with complex outcomes Lancet 361 2003 865 872
34. P. Castro-Santos, A. Suarez, L. Lopez-Rivas, L. Mozo, and C. Gutierrez TNF[alpha] and IL-10 gene polymorphisms in inflammatory bowel disease. Association of -1082 AA low producer IL-10 genotype with steroid dependency Am J Gastroenterol 101 2006 1039 1047
35. M. Parkes, J. Satsangi, and D. Jewell Contribution of the IL-2 and IL-10 genes to inflammatory bowel disease (IBD) susceptibility Clin Exp Immunol 113 1998 28 32
36. S.T. Sherry, M. Ward, and K. Sirotkin dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation Genome Res 9 1999 677 679
37. R. Sachidanandam, D. Weissman, S.C. Schmidt, J.M. Kakol, L.D. Stein, and G. Marth et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms Nature 409 2001 928 933
38. G.A. McVean, S.R. Myers, S. Hunt, P. Deloukas, D.R. Bentley, and P. Donnelly The fine-scale structure of recombination rate variation in the human genome Science 304 2004 581 584
39. K.A. Frazer, D.G. Ballinger, D.R. Cox, D.A. Hinds, L.L. Stuve, and R.A. Gibbs et al. A second generation human haplotype map of over 3.1 million SNPs Nature 449 2007 851 861
40. A.-C. Syvanen Toward genome-wide SNP genotyping Nat Genet 2005 37
41. International HapMap C, K.A. Frazer, D.G. Ballinger, D.R. Cox, D.A. Hinds, and L.L. Stuve et al. A second generation human haplotype map of over 3.1 million SNPs Nature 449 2007 851 861
42. J.C. Barrett, and L.R. Cardon Evaluating coverage of genome-wide association studies Nat Genet 38 2006 659 662
43. J. Marchini, and B. Howie Genotype imputation for genome-wide association studies Nat Rev Genet 11 2010 499 511
44. Y. Li, C. Willer, S. Sanna, and G. Abecasis Genotype imputation Annu Rev Genomics Hum Genet 10 2009 387 406
45. C. Genomes Project, G.R. Abecasis, A. Auton, L.D. Brooks, M.A. DePristo, and R.M. Durbin et al. An integrated map of genetic variation from 1,092 human genomes Nature 491 2012 56 65
46. C. International HapMap, D.M. Altshuler, R.A. Gibbs, L. Peltonen, D.M. Altshuler, and R.A. Gibbs et al. Integrating common and rare genetic variation in diverse human populations Nature 467 2010 52 58
47. K. Yamazaki, D. McGovern, J. Ragoussis, M. Paolucci, H. Butler, and D. Jewell et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease Hum Mol Genet 14 2005 3499 3506
48. J. Hampe, A. Franke, P. Rosenstiel, A. Till, M. Teuber, and K. Huse et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1 Nat Genet 39 2007 207 211
49. R.H. Duerr, K.D. Taylor, S.R. Brant, J.D. Rioux, M.S. Silverberg, and M.J. Daly et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene Science 314 2006 1461 1463
50. J.D. Rioux, R.J. Xavier, K.D. Taylor, M.S. Silverberg, P. Goyette, and A. Huett et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis Nat Genet 39 2007 596 604
51. C. Libioulle, E. Louis, S. Hansoul, C. Sandor, F. Farnir, and D. Franchimont et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4 PLoS Genet 3 2007 e58
52. M. Parkes, J.C. Barrett, N.J. Prescott, M. Tremelling, C.A. Anderson, and S.A. Fisher et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility Nat Genet 39 2007 830 832
53. A. Franke, J. Hampe, P. Rosenstiel, C. Becker, F. Wagner, and R. Häsler et al. Systematic association mapping identifies NELL1 as a Novel IBD Disease Gene PLoS ONE 2 2007 e691
54. J.V. Raelson, R.D. Little, A. Ruether, H. Fournier, B. Paquin, and P. Van Eerdewegh et al. Genome-wide association study for Crohn's disease in the Quebec founder population identifies multiple validated disease loci Proc Natl Acad Sci U S A 104 2007 14747 14752
55. Wellcome Trust Case Control C Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls Nature 447 2007 661 678
56. S. Turner, L.L. Armstrong, Y. Bradford, C.S. Carlson, D.C. Crawford, and A.T. Crenshaw et al. Quality control procedures for genome-wide association studies Curr Protoc Hum Genet 2011 Chapter 1:Unit1 19
57. J. Van Limbergen, D.C. Wilson, and J. Satsangi The genetics of Crohn's disease Annu Rev Genomics Hum Genet 10 2009 89 116
58. A. Zhernakova, C.C. van Diemen, and C. Wijmenga Detecting shared pathogenesis from the shared genetics of immune-related diseases Nat Rev Genet 10 2009 43 55
59. L. Jostins, S. Ripke, R.K. Weersma, R.H. Duerr, D.P. McGovern, and K.Y. Hui et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease Nature 491 2012 119 124
60. B. Maher Personal genomes: The case of the missing heritability Nature 456 2008 18 21
61. T.A. Manolio, F.S. Collins, N.J. Cox, D.B. Goldstein, L.A. Hindorff, and D.J. Hunter et al. Finding the missing heritability of complex diseases Nature 461 2009 747 753
62. J. Yang, B. Benyamin, B.P. McEvoy, S. Gordon, A.K. Henders, and D.R. Nyholt et al. Common SNPs explain a large proportion of the heritability for human height Nat Genet 42 2010 565 569
63. S.H. Lee, N.R. Wray, M.E. Goddard, and P.M. Visscher Estimating missing heritability for disease from genome-wide association studies Am J Hum Genet 88 2011 294 305
64. J.C. Barrett, S. Hansoul, D.L. Nicolae, J.H. Cho, R.H. Duerr, and J.D. Rioux et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease Nat Genet 40 2008 955 962
65. A. Franke, D.P. McGovern, J.C. Barrett, K. Wang, G.L. Radford-Smith, and T. Ahmad et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci Nat Genet 42 2010 1118 1125
66. B.E. Stranger, S.B. Montgomery, A.S. Dimas, L. Parts, O. Stegle, and C.E. Ingle et al. Patterns of cis regulatory variation in diverse human populations PLoS Genet 8 2012 e1002639
67. T. Lappalainen, M. Sammeth, M.R. Friedlander, P.A. t Hoen, J. Monlong, and M.A. Rivas et al. Transcriptome and genome sequencing uncovers functional variation in humans Nature 501 2013 506 511
68. A. Cortes, and M. Brown Promise and pitfalls of the Immunochip Arthritis Res Ther 13 2011 101
69. M. Parkes, A. Cortes, D.A. van Heel, and M.A. Brown Genetic insights into common pathways and complex relationships among immune-mediated diseases Nat Rev Genet 14 2013 661 673
70. Consortium EP, B.E. Bernstein, E. Birney, I. Dunham, E.D. Green, and C. Gunter et al. An integrated encyclopedia of DNA elements in the human genome Nature 489 2012 57 74
71. J. Lonsdale, J. Thomas, M. Salvatore, R. Phillips, E. Lo, and S. Shad et al. The Genotype-Tissue Expression (GTEx) project Nat Genet 45 2013 580 585
72. M.A. Schaub, A.P. Boyle, A. Kundaje, S. Batzoglou, and M. Snyder Linking disease associations with regulatory information in the human genome Genome Res 22 2012 1748 1759
73. G. Trynka, and S. Raychaudhuri Using chromatin marks to interpret and localize genetic associations to complex human traits and diseases Curr Opin Genet Dev 23 2013 635 641
74. J.Z. Liu, M.A. Almarri, D.J. Gaffney, G.F. Mells, L. Jostins, and H.J. Cordell et al. Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis Nat Genet 44 2012 1137 1141
75. L. Cong, F.A. Ran, D. Cox, S. Lin, R. Barretto, and N. Habib et al. Multiplex genome engineering using CRISPR/Cas systems Science 339 2013 819 823
76. P. Mali, L. Yang, K.M. Esvelt, J. Aach, M. Guell, and J.E. DiCarlo et al. RNA-guided human genome engineering via Cas9 Science 339 2013 823 826
77. D.A. Robinton, and G.Q. Daley The promise of induced pluripotent stem cells in research and therapy Nature 481 2012 295 305
78. S.A. McCarroll, A. Huett, P. Kuballa, S.D. Chilewski, A. Landry, and P. Goyette et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease Nat Genet 40 2008 1107 1112
79. N.J. Prescott, K.M. Dominy, M. Kubo, C.M. Lewis, S.A. Fisher, and R. Redon et al. Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease Hum Mol Genet 19 2010 1828 1839
80. D.R. Blair, C.S. Lyttle, J.M. Mortensen, C.F. Bearden, A.B. Jensen, and H. Khiabanian et al. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk Cell 155 2013 70 80
81. Y. Momozawa, M. Mni, K. Nakamura, W. Coppieters, S. Almer, and L. Amininejad et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease Nat Genet 43 2011 43 47
82. S. Nejentsev, N. Walker, D. Riches, M. Egholm, and J.A. Todd Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes Science 324 2009 387 389
83. S. Sanna, A.U. Jackson, R. Nagaraja, C.J. Willer, W.M. Chen, and L.L. Bonnycastle et al. Common variants in the GDF5-UQCC region are associated with variation in human height Nat Genet 40 2008 198 203
84. V. Bansal, O. Libiger, A. Torkamani, and N.J. Schork Statistical analysis strategies for association studies involving rare variants Nat Rev Genet 11 2010 773 785
85. J. Asimit, and E. Zeggini Rare Variant Association Analysis Methods for Complex Traits Ann Rev Genet 44 2010 293 308
86. S. Basu, and W. Pan Comparison of statistical tests for disease association with rare variants Genetic Epidemiol 35 2011 606 619
87. A. Kiezun, K. Garimella, R. Do, N.O. Stitziel, B.M. Neale, and P.J. McLaren et al. Exome sequencing and the genetic basis of complex traits Nat Genet 44 2012 623 630
88. Y.-J. Hu, I. Berndt Sonja, S. Gustafsson, A. Ganna, J. Hirschhorn, and K.E. North et al. Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics Am J Hum Genet 93 2013 236 248
89. S. Lee, M. Teslovich Tanya, M. Boehnke, and X. Lin General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies Am J Hum Genet 93 2013 42 53
90. D.J. Liu, G.M. Peloso, X. Zhan, O.L. Holmen, M. Zawistowski, and S. Feng et al. Meta-analysis of gene-level tests for rare variant association Nat Genet 46 2014 200 204
91. K.A. Hunt, V. Mistry, N.A. Bockett, T. Ahmad, M. Ban, and J.N. Barker et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability Nature 498 2013 232 235
92. M.A. Rivas, M. Beaudoin, A. Gardet, C. Stevens, Y. Sharma, and C.K. Zhang et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease Nat Genet 43 2011 1066 1073
93. C.T. Chen, J.C. Wang, and B.A. Cohen The strength of selection on ultraconserved elements in the human genome Am J Hum Genet 80 2007 692 704
94. D. Ellinghaus, H. Zhang, S. Zeissig, S. Lipinski, A. Till, and T. Jiang et al. Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies Gastroenterology 145 2013 339 347
95. O. Zuk, S.F. Schaffner, K. Samocha, R. Do, E. Hechter, and S. Kathiresan et al. Searching for missing heritability: Designing rare variant association studies Proc Natl Acad Sci USA 2014 Published online January 17 http://www.pnas.org/content/early/2014/01/16/1322563111
96. Y. Li, C. Sidore, H.M. Kang, M. Boehnke, and G.R. Abecasis Low-coverage sequencing: implications for design of complex trait association studies Genome Res 21 2011 940 951
97. T.A. Lasko, J.G. Bhagwat, K.H. Zou, and L. Ohno-Machado The use of receiver operating characteristic curves in biomedical informatics J Biomed Inform 38 2005 404 415
98. D.M. Ruderfer, J. Korn, and S.M. Purcell Family-based genetic risk prediction of multifactorial disease Genome Med 2 2010 2
99. J. Kang, S. Kugathasan, M. Georges, H. Zhao, J.H. Cho Consortium NIG Improved risk prediction for Crohn's disease with a multi-locus approach Hum Mol Genet 20 2011 2435 2442
100. L. Jostins, and J.C. Barrett Genetic risk prediction in complex disease Hum Mol Genet 20 2011 R182 R188
101. N.R. Wray, J. Yang, M.E. Goddard, and P.M. Visscher The genetic interpretation of area under the ROC curve in genomic profiling PLoS Genet 6 2010 e1000864
102. I. Cleynen, J.R. Gonzalez, C. Figueroa, A. Franke, D. McGovern, and M. Bortlik et al. Genetic factors conferring an increased susceptibility to develop Crohn's disease also influence disease phenotype: results from the IBDchip European Project Gut 62 2013 1556 1565
103. M. Jurgens, S. Brand, R.P. Laubender, J. Seiderer, J. Glas, and M. Wetzke et al. The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn's disease independent of the IL23R genotype J Gastroenterol 45 2010 721 731
104. J.C. Lee, M. Espeli, C.A. Anderson, M.A. Linterman, J.M. Pocock, and N.J. Williams et al. Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway Cell 155 2013 57 69
105. M.C. Dubinsky, S. Kugathasan, S. Kwon, T. Haritunians, I. Wrobel, and G. Wahbeh et al. Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease Inflamm Bowel Dis 19 2013 1662 1670
106. S. Brand Moving the genetics of inflammatory bowel diseases from bench to bedside: first steps towards personalised medicine Gut 62 2013 1531 1533
107. E.F. McKinney, P.A. Lyons, E.J. Carr, J.L. Hollis, D.R. Jayne, and L.C. Willcocks et al. A CD8+ T cell transcription signature predicts prognosis in autoimmune disease Nat Med 16 2010 586 591 1p following 591
108. S. Purcell, S.S. Cherny, and P.C. Sham Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits Bioinformatics 19 2003 149 150