Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease

Gut

Volumn 55, Issue 8, 2006, Pages 1114-1123

  Russell, R K ^a   Drummond, H E ^a   Nimmo, E R ^a   Anderson, N H ^a   Noble, C L ^a   Wilson, D C ^a   Gillett, P M ^b   McGrogan, P ^c   Hassan, K ^c   Weaver, L T ^d   Bisset, W M ^e   Mahdi, G ^e   Satsangi, J ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

^e ROYAL ABERDEEN CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTICLE; BODY MASS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; ENTERITIS; FEMALE; FOLLOW UP; GENE FREQUENCY; GENE SEQUENCE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ANTHROPOMETRY; CASE-CONTROL STUDIES; CHILD; COLITIS, ULCERATIVE; CROHN DISEASE; EPISTASIS, GENETIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GROWTH; HUMANS; HYPERSENSITIVITY, IMMEDIATE; INFLAMMATORY BOWEL DISEASES; LINKAGE DISEQUILIBRIUM; MALE; ORGANIC CATION TRANSPORT PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33646061100     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2005.082107     Document Type: Article

References (60)

1. Bonen DK, Cho JH. The genetics of inflammatory bowel disease. Gastroenterology 2003;124:521-36.
2. Kim SC, Ferry GD. Inflammatory bowel diseases in pediatric and adolescent patients: clinical, therapeutic, and psychosocial considerations. Gastroenterology 2004;126:1550-60.
3. Sawczenko A, Sandhu BK, Logan RF, et al. Prospective survey of childhood inflammatory bowel disease in the British Isles. Lancet 2001;357:1093-4.
4. Armitage E, Drummond HE, Wilson DC, et al. Increasing incidence of both juvenile-onset Crohn's disease and ulcerative colitis in Scotland. Eur J Gastroenterol Hepatol 2001;13:1439-47.
5. Barton JR, Gillon S, Ferguson A. Incidence of inflammatory bowel disease in Scottish children between 1968 and 1983; marginal fall in ulcerative colitis, three-fold rise in Crohn's disease. Gut 1989;30:618-22.
6. Griffiths AM. Specificities of inflammatory bowel disease in childhood. Best Pract Res Clin Gastroenterol 2004;18:509-23.
7. Spray C, Debelle GD, Murphy MS. Current diagnosis, management and morbidity in paediatric inflammatory bowel disease. Acta Paediatr 2001;90:400-5.
8. Sawczenko A, Sandhu BK. Presenting features of inflammatory bowel disease in Great Britain and Ireland. Arch Dis Child 2003;88:995-1000.
9. Wine E, Reif SS, Leshinsky-Sirver E, et al. Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity. Pediatrics 2004;114:1281-0.
10. Levine A, Shamir R, Wine E, et al. TNF promoter polymorphisms and modulation of growth retardation and disease severity in pediatric Crohn's disease. Am J Gastroenterol 2005;100:1598-604.
11. Tomer G, Ceballos C, Concepcion E, et al. NOD2/CARD15 variants are associated with lower weight at diagnosis in children with Crohn's disease. Am J Gastroenterol 2003;98:2479-84.
12. Russell RK, Wilson DC, Satsangi J. Unravelling the complex genetics of inflammatory bowel disease. Arch Dis Child 2004;89:598-603.
13. Russell RK, Drummond HE, Nimmo ER, et al. Genotype-phenolype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe disease. Inflamm Bowel Dis 2005;11:955-64.
14. Rioux JD, Silverberg MS, Daly MJ, et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 2000;66:1863-70.
15. Ma Y, Ohmen JD, Li Z, et al. A genome-wide search identifies potential new susceptibility loci for Crohn's disease. Inflamm Bowel Dis 1999;5:271-8.
16. Daly MJ, Rioux JD, Schaffner SF, et al. High-resolution haplotype structure in the human genome. Nat Genet 2001;29:229-32.
17. Rioux JD, Daly MJ, Silverberg MS, et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001;29:223-8.
18. Giallourakis C, Stoll M, Miller K, et al. IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. Am J Hum Genet 2003;73:205-11.
19. Mirza MM, Fisher SA, King K, et al. Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease. Am J Hum Genet 2003;72:1018-22.
20. Armuzzi A, Ahmad T, Ling KL et al. Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31. Gut 2003;52:1133-9.
21. Negoro K, McGovern DP, Kinouchi Y, et al. Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. Gut 2003;52:541-6.
22. Van Heel DA, Dechairo BM, Dawson G, et al. The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. Hum Mol Genet 2003;12:2569-75.
23. McGovern DP, Van Heel DA, Negoro K, et al. Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis. Am J Hum Genet 2003;73:1405-6.
24. Peltekova VD, Wintle RF, Rubin LA, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 2004;36:471-5.
25. Torok HP, Glas J, Tonenchi L, er al. Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Gut 2005;54:1421-7.
26. Noble CL, Nimmo ER, Drummond H, et al. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. Gastroenterology 2005;129:1854-64.
27. Lennard-Jones JE. Classification of inflammatory bowel disease. Scand J Gastroenterol 1989;170:2-6.
28. Gasche C, Scholmerich J, Brynskov J, et al. A simple classification of Crohn's disease: report of the Working Party for the World Congresses of Gastroenterology, Vienna 1998. Inflamm Bowel Dis 2000;6:8-15.
29. Silverberg MS, Satsangi J, Ahmad T, et al. Towards an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 2005;19(suppl A):5-36.
30. IBD Working Group of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Inflammatory bowel disease in children and adolescents: recommendations for diagnosis-the Porto criteria. J Pediatr Gastroenterol Nutr 2005;41:1-7.
31. Sharif F, McDermott M, Dillon M, et al. Focally enhanced gastritis in children with Crohn's disease and ulcerative colitis. Am J Gastroenterol 2002;97:1415-20.
32. Kundhal PS, Stormon MO, Zachos M, et al. Gastric antral biopsy in the differentiation of pediatric colitides. Am J Gastroenterol 2003;98:557-61.
33. Vermeire S, Pierik M, Hlavaly T, et al. Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. Gastroenterology 2005;129:1845-53.
34. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
35. Arnott ID, Nimmo ER, Drummond HE, et al. NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? Genes Immun 2004;5:417-25.
36. Clayton D. A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 1999;65:1170-7.
37. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-66.
38. Russell RK, Satsangi J, Wilson DC. More Pediatriv NOD2/CARD Data. Am J Gastroenterol 2004;99:1401.
39. Roesler J, Thurigen A, Sun L, et al. Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany. J Pediatr Gastroenterol Nutr 2005;41:27-32.
40. Newby EA, Sawczenko A, Thomas AG, et al. Interventions for growth failure in childhood Crohn's disease. The Cochrane Database of Systematic Reviews 2005, issue 3. Art No: CD003873. DOI:10.1002/14651858.CD003873.pub2.
41. Markowitz J, Grancher K, Rosa J, et al. Growth failure in pediatric inflammatory bowel disease. J Pediatr Gastroenterol Nutr 1993;16:373-80.
42. Motil KJ, Grand RJ, Davis-Kraft L, et al. Growth failure in children with inflammatory bowel disease: a prospective study. Gastroenterology 1993;105:681-91.
43. Trinh TT, Rioux JD. Understanding association and causality in the genetic studies of inflammatory bowel disease. Gastroenterology 2005;129:2106-10.
44. Newman B, Gu X, Wintle R, et al. A risk haplotype in the solute carrier family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. Gastroenterology 2005;128:260-9.
45. Kugathasan S, Judd RH, Hoffmann RG, et al. Epidemiologic and clinical characteristics of children with newly diagnosed inflammatory bowel disease in Wisconsin: a statewide population-based study. J Pediatr 2003;143:525-31.
46. Heyman MB, Kirschner BS, Gold BD, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr 2005;146:35-40.
47. Onnie C, Fisher S, Hampe J, et al. Multiple SNPs at the IBD5 locus contribute to the risk of Crohn's disease. Gut 2005;54:361.
48. Waller S, Tremelling M, Bredin F, et al. Evidence for association of OCTN genes and IBD5 with ulcerative colitis [abstract]. Gastroenterology 2005;128:A447.
49. Klein W, Tromm A, Griga T, et al. Interleukin-4 and interleukin-4 receptor gene polymorphisms in inflammatory bowel diseases. Genes Immun 2001;2:287-9.
50. Aithal GP, Day CP, Leathart J, et al. Association of single nucleotide polymorphisms in the interleukin-4 gene and interleukin-4 receptor gene with Crohn's disease in a British population. Genes Immun 2001;2:44-7.
51. Karttunnen R, Breese EJ, Walker-Smith JA, et al. Decreased mucosal interleukin-4 (IL-4) production in gut inflammation. J Clin Pathol 1994;47:1015-18.
52. Kadivar K, Ruchelli ED, Markowitz JE, et al. Intestinal interleukin-13 in pediatric inflammatory bowel disease patients. Inflamm Bowel Dis 2004;10:593-8.
53. Carvalho AT, Elia CC, de Souza HS et al. Immunohistochemical study of intestinal eosinophils in inflammatory bowel disease. J Clin Gastroenterol 2003;36:120-5.
54. Noguchi M, Hiwatashi N, Liu ZX, et al. Increased secretion of granulocyte-macrophage colony-stimulating factor in mucosal lesions of inflammatory bowel disease. Digestion 2001;63(suppl 1):32-6.
55. The Collaborative Study on the Generics of Asthma. A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nat Genet 1997;15:389-92.
56. Xu J, Meyers DA, Ober C, et al. Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three US populations: collaborative study on the genetics of asthma. Am J Hum Genet 2001;68:1437-46.
57. Holloway JW, Lonjou C, Beghe B, et al. Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families. Genes Immun 2001;2:20-4.
58. Hizawa N, Freidhoff LR, Ehrlich E, et al. Genetic influences of chromosomes 5q31-q33 and 11q13 on specific IgE responsiveness to common inhaled allergens among African American families. Collaborative Study on the Genetics of Asthma (CSGA). J Allergy Clin Immunol 1998;102:449-53.
59. Randolph AG, Lange C, Silverman EK, et al. The IL12B gene is associated with asthma. Am J Hum Genet 2004;75:709-15.
60. Howard TD, Whittaker PA, Zaiman AL, et al. Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population. Am J Respir Cell Mol Biol 2001;25:377-84.