Chromosome 5q candidate genes in coeliac disease: Genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1

Tissue Antigens

Volumn 65, Issue 2, 2005, Pages 150-155

  Ryan, A W ^a   Thornton, J M ^a   Brophy, K ^a   Daly, J S ^a   McLoughlin, R M ^b   O'Morain, C ^b   Abuzakouk, M ^a   Kennedy, N P ^a   Stevens, F M ^c   Feighery, C ^a   Kelleher, D ^a   McManus, R ^a  

^a ST JAMES S HOSPITAL   (Ireland)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c NATIONAL UNIVERSITY OF IRELAND   (Ireland)

Author keywords

5q31; Autoimmunity; CELIAC2; Coeliac disease; Gluten sensitivity

Indexed keywords

CYTOKINE; DNA; GLUCOCORTICOID RECEPTOR; GLUTEN; HLA DQB1 ANTIGEN; INTERLEUKIN 13; INTERLEUKIN 17; INTERLEUKIN 4; INTERLEUKIN 5; INTERLEUKIN 9; INTERLEUKIN RECEPTOR;

ALLELE; ARTICLE; AUTOIMMUNITY; CASE CONTROL STUDY; CELIAC DISEASE; CELIAC2 GENE; CHROMOSOME 5Q; CONTROLLED STUDY; EUROPE; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAPLOTYPE; HLA SYSTEM; HUMAN; IL13 GENE; IL17B GENE; IL4 GENE; IL5 GENE; IL9 GENE; IMMUNOGENETICS; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; NR3C1 GENE; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; CELIAC DISEASE; CHROMOSOMES, HUMAN, PAIR 5; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC MARKERS; HAPLOTYPES; HUMANS; INTERLEUKIN-13; INTERLEUKIN-17; INTERLEUKIN-4; INTERLEUKIN-5; INTERLEUKIN-9; INTERLEUKINS; IRELAND; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, GLUCOCORTICOID; VARIATION (GENETICS);

EID: 20044369353     PISSN: 00012815     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2005.00354.x     Document Type: Article

References (53)

1. Sollid LM, Thorsby E. HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis. Gastroenterology 1993: 105: 910-22.
2. Shan L, Molberg O, Parrot I et al. Structural basis for gluten intolerance in celiac sprue. Science 2002: 297: 2275-9.
3. McManus R, Moloney M, Borton M et al. Association of celiac disease with microsatellite polymorphisms close to the tumor necrosis factor genes. Hum Immunol 1996: 45: 24-31.
4. McManus R, Wilson AG, Mansfield J, Weir DG, Duff GW, Kelleher D. TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the celiac disease major histocompatibility complex haplotype. Eur J Immunol 1996: 26: 2113-8.
5. Louka AS, Lie BA, Talseth B et al. Coeliac disease patients carry conserved HLA-DR3-DQ2 haplotypes revealed by association of TNF alleles. Immunogenetics 2003: 55: 339-43.
6. Bolognesi E, Karell K, Percopo S et al. Additional factor in some HLA DR3/DQ2 haplotypes confers a fourfold increased genetic risk of celiac disease. Tissue Antigens 2003: 61: 308-16.
7. Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, Mougenot JF, Bach JF, Caillat-Zucman S. CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. Gut 1998: 43: 187-9.
8. Naluai AT, Nilsson S, Gudjonsdottir AH et al. Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11. Eur J Hum Genet 2001: 9: 938-44.
9. Clot F, Fulchignoni-Lataud MC, Renoux C et al. Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations. Tissue Antigens 1999: 54: 527-30.
10. Van Belzen MJ, Meijer JW, Sandkuijl LA et al. A major non-HLA locus in celiac disease maps to chromosome 19. Gastroenterology 2003: 125: 1032-41.
11. Greco L, Corazza G, Babron MC et al. Genome search in celiac disease. Am J Hum Genet 1998: 62: 669-75.
12. Greco L, Babron MC, Corazza GR et al. Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families. Ann Hum Genet 2001: 65: 35-41.
13. Holopainen P, Mustalahti K, Uimari P, Collin P, Maki M, Partanen J. Candidate gene regions and genetic heterogeneity in gluten sensitivity. Gut 2001: 48: 696-701.
14. Percopo S, Babron MC, Whalen M et al. Saturation of the 5q31-q33 candidate region for coeliac disease. Ann Hum Genet 2003: 67: 265-8.
15. Babron MC, Nilsson S, Adamovic S et al. Meta and pooled analysis of European coeliac disease data. Eur J Hum Genet 2003: 11: 828-34.
16. Sollid LM. Coeliac disease: dissecting a complex inflammatory disorder. Nat Rev Immunol 2002: 2: 647-55.
17. SeattleSNPs. NHLBI Program for Genomic Applications, UW-FHCRC, Seattle, WA (accessed October 2003, from http://pga.gs.washington.edu).
18. Minty A, Chalon P, Derocq JM et al. Interleukin-13 is a new human lymphokine regulating inflammatory and immune responses. Nature 1993: 362: 248-50.
19. Heinzmann A, Mao XQ, Akaiwa M et al. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet 2000: 9: 549-59.
20. Howard TD, Koppelman GH, Xu J et al. Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet 2002: 70: 230-6.
21. Heinzmann A, Jerkic SP, Ganter K et al. Association study of the IL13 variant Arg110Gln in atopic diseases and juvenile idiopathic arthritis. J Allergy Clin Immunol 2003: 112: 735-9.
22. Bugawan TL, Mirel DB, Valdes AM, Panelo A, Pozzilli P, Erlich HA. Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos. Am J Hum Genet 2003: 72: 1505-14.
23. Rosenwasser LJ. Promoter polymorphism in the candidate genes, IL-4, IL-9, TGF-beta1, for atopy and asthma. Int Arch Allergy Immunol 1999: 118: 268-70.
24. Choi EH, Lee HJ, Yoo T, Chanock SJ. A common haplotype of interleukin-4 gene IL4 is associated with severe respiratory syncytial virus disease in Korean children. J Infect Dis 2002: 186: 1207-11.
25. Choi EH, Foster CB, Taylor JG et al. Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes. J Infect Dis 2003: 187: 1153-6.
26. Westerholm-Ormio M, Garioch J, Ketola I, Savilahti E. Inflammatory cytokines in small intestinal mucosa of patients with potential coeliac disease. Clin Exp Immunol 2002: 128: 94-101.
27. Desreumaux P, Delaporte E, Colombel JF, Capron M, Cortot A, Janin A. Similar IL-5, IL-3, and GM-CSF syntheses by eosinophils in the jejunal mucosa of patients with celiac disease and dermatitis herpetiformis. Clin Immunol Immunopathol 1998: 88: 14-21.
28. Desreumaux P, Janin A, Colombel JF et al. Interleukin 5 messenger RNA expression by eosinophils in the intestinal mucosa of patients with coeliac disease. J Exp Med 1992: 175: 293-6.
29. Kawashima T, Noguchi E, Arinami T et al. Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families. J Med Genet 1998: 35: 502-4.
30. Hunt PJ, Marshall SE, Weetman AP, Bell JI, Wass JA, Welsh KI. Cytokine gene polymorphisms in autoimmune thyroid disease. J Clin Endocrinol Metab 2000: 85: 1984-8.
31. Nicolaides NC, Holroyd KJ, Ewart SL et al. Interleukin 9: a candidate gene for asthma. Proc Natl Acad Sci USA 1997: 94: 13175-80.
32. Laitinen T, Kauppi P, Ignatius J et al. Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet 1997: 6: 2069-76.
33. Freidin MB, Puzyrev VP, Ogorodova LM et al. Analysis of the association between the T113m polymorphism of the human IL-9 gene and bronchial asthma. Genetica 2000: 36: 559-61.
34. DeRijk RH, Schaaf M, de Kloet ER. Glucocorticoid receptor variants: clinical implications. J Steroid Biochem Mol Biol 2002: 81: 103-22.
35. Huizenga NA, Koper JW, De Lange P et al. A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo. J Clin Endocrinol Metab 1998: 83: 144-51.
36. Dobson MG, Redfern CP, Unwin N, Weaver JU. The N363S polymorphism of the glucocorticoid receptor: potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus. J Clin Endocrinol Metab 2001: 86: 2270-4.
37. Lin RC, Wang WY, Morris BJ. Association and linkage analyses of glucocorticoid receptor gene markers in essential hypertension. Hypertension 1999: 34: 1186-92.
38. Hakonarson H, Bjornsdottir US, Ostermann E et al. Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. Am J Respir Crit Care Med 2001: 164: 2036-44.
39. Derijk RH, Schaaf MJ, Turner G et al. A human glucocorticoid receptor gene variant that increases the stability of the glucocorticoid receptor beta-isoform mRNA is associated with rheumatoid arthritis. J Rheumatol 2001: 28: 2383-8.
40. Shi Y, Ullrich SJ, Zhang J et al. A novel cytokine receptor-ligand pair. Identification, molecular characterization, and in vivo immunomodulatory activity. J Biol Chem 2000: 275: 19167-76.
41. Lee J, Ho WH, Maruoka M et al. IL-17E, a novel proinflammatory ligand for the IL-17 receptor homolog IL-17Rh1. J Biol Chem 2001: 276: 1660-4.
42. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003: 19: 149-50.
43. Raymond M, Rousset F. GENEPOP: population genetics software for exact test and ecumenicism. J Hered 1995: 86: 248-9.
44. Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995: 12: 921-7.
45. Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003: 73: 1162-9.
46. Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet 2001: 2: 91-9.
47. Tokuhiro S, Yamada R, Chang X et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 2003: 35: 341-8.
48. Rioux JD, Daly MJ, Silverberg MS et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn's disease. Nat Genet 2001: 29: 223-8.
49. van Heel D, McGovern DP, Negoro K et al. Influence of the IBD5/5q31 cytokine cluster haplotype on Coeliac disease genetic susceptibility. Gastroenterology 2002: 122 (Suppl.): A-386.
50. Ryan AW, Thornton JM, Brophy K et al. Haplotype variation at the IBD5/SLC22A4 locus (5q31) in coeliac disease in the Irish population. Tissue Antigens 2004: 64: 195-8.
51. Boniotto M, Braida L, Ventura A, Percopo S, Amoroso A, Crovella S. Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease. J Med Genet 2003: 40: e108.
52. Louka AS, Torinsson Naluai A, D'Alfonso S et al. The IL12B gene does not confer susceptibility to coeliac disease. Tissue Antigens 2002: 59: 70-2.
53. Seegers D, Borm ME, van Beizen MJ et al. IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease. Eur J Immunogenet 2003: 30: 421-5.