IBD Genetic Risk Profile in Healthy First-Degree Relatives of Crohn's Disease Patients

Journal of Crohn's and Colitis

Volumn 10, Issue 2, 2016, Pages 209-215

  Kevans, David ^a,b   Silverberg, Mark S ^a,b   Borowski, Krzysztof ^a   Griffiths, Anne ^c   Xu, Wei ^d   Onay, Venus ^a   Paterson, Andrew D ^e   Knight, Jo ^b,d,f   Croitoru, Ken ^a,b  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^f CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

Author keywords

Crohn's disease; first degree relatives; genotyping

Indexed keywords

ABDOMINAL PAIN; ADULT; ARTICLE; BODY WEIGHT LOSS; COMPARATIVE STUDY; CONTROLLED STUDY; CORRELATION COEFFICIENT; CROHN DISEASE; DISEASE PREDISPOSITION; FIRST-DEGREE RELATIVE; FOLLOW UP; GASTROINTESTINAL DISEASE; GENE FREQUENCY; GENETIC RISK; GENETIC RISK SCORE; GENETIC SUSCEPTIBILITY; GENOTYPING; HUMAN; INFLAMMATORY BOWEL DISEASE; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; PATHOGENESIS; PROGENY; PROSPECTIVE STUDY; QUALITY CONTROL; QUESTIONNAIRE; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ALLELE; CHILD; FAMILY; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MALE; PEDIGREE; RISK FACTOR; YOUNG ADULT;

CASPASE RECRUITMENT DOMAIN PROTEIN 15;

ADOLESCENT; ADULT; ALLELES; CHILD; CROHN DISEASE; FAMILY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; NOD2 SIGNALING ADAPTOR PROTEIN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RISK FACTORS; YOUNG ADULT;

EID: 85015683534     PISSN: 18739946     EISSN: 18764479     Source Type: Journal    
DOI: 10.1093/ECCO-JCC/JJV197     Document Type: Article

References (29)

1. Bernstein CN, Wajda A, Svenson LW, et al. The epidemiology of inflammatory bowel disease in Canada: a population-based study. Am J Gastroenterol 2006;101:1559-68.
2. Loftus EV Jr. Clinical epidemiology of inflammatory bowel disease: Incidence, prevalence, and environmental influences. Gastroenterology 2004;126:1504-17.
3. Orholm M, Munkholm P, Langholz E, Nielsen OH, Sorensen TI, Binder V. Familial occurrence of inflammatory bowel disease. N Engl J Med 1991;324:84-8.
4. Probert CS, Jayanthi V, Hughes AO, Thompson JR, Wicks AC, Mayberry JF. Prevalence and family risk of ulcerative colitis and Crohn's disease: an epidemiological study among Europeans and South Asians in Leicestershire. Gut 1993;34:1547-51.
5. Fielding JF. The relative risk of inflammatory bowel disease among parents and siblings of Crohn's disease patients. J Clin Gastroenterol 1986;8:655-7.
6. Bennett RA, Rubin PH, Present DH. Frequency of inflammatory bowel disease in offspring of couples both presenting with inflammatory bowel disease. Gastroenterology 1991;100:1638-43.
7. Lowe AM, Roy PO, B-Poulin M, et al. Epidemiology of Crohn's disease in Quebec, Canada. Inflamm Bowel Dis 2009;15:429-35.
8. Ben-Horin S, Avidan B, Yanai H, Lang A, Chowers Y, Bar-Meir S. Familial clustering of Crohn's disease in Israel: prevalence and association with disease severity. Inflamm Bowel Dis 2009;15:171-5.
9. Halfvarson J. Genetics in twins with Crohn's disease: less pronounced than previously believed? Inflamm Bowel Dis 2011;17:6-12.
10. Tysk C, Lindberg E, Jarnerot G, Floderus-Myrhed B. Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut 1988;29:990-6.
11. Brant SR. Update on the heritability of inflammatory bowel disease: the importance of twin studies. Inflamm Bowel Dis 2011;17:1-5.
12. Stokkers PC, Reitsma PH, Tytgat GN, van Deventer SJ. HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis. Gut 1999;45:395-401.
13. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
14. Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006;314:1461-3.
15. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007;39:596-604.
16. Parkes M, Barrett JC, Prescott NJ, et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007;39:830-2.
17. Wellcome Trust Case Control C. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
18. Barrett JC, Hansoul S, Nicolae DL, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008;40:955-62.
19. Franke A, McGovern DP, Barrett JC, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010;42:1118-25.
20. Anderson CA, Boucher G, Lees CW, et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011;43:246-52.
21. McGovern DP, Gardet A, Torkvist L, et al. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat Genet 2010;42:332-7.
22. Cortes A, Brown MA. Promise and pitfalls of the Immunochip. Arthritis Res Ther 2011;13:101.
23. Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491:119-24.
24. Liu JZ, van Sommeren S, Huang H, et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet 2015;47:979-86.
25. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
26. Ramon HE, Beal AM, Liu Y, Worthen GS, Oliver PM. The E3 ubiquitin ligase adaptor Ndfip1 regulates Th17 differentiation by limiting the production of proinflammatory cytokines. J Immunol 2012;188:4023-31.
27. Ananthakrishnan AN, Huang H, Nguyen DD, Sauk J, Yajnik V, Xavier RJ. Differential effect of genetic burden on disease phenotypes in Crohn's disease and ulcerative colitis: analysis of a North American cohort. Am J Gastroenterol 2014;109:395-400.
28. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009;461:747-53.
29. Do CB, Hinds DA, Francke U, Eriksson N. Comparison of family history and SNPs for predicting risk of complex disease. PLoS Genet 2012;8:e1002973.