IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin

Genetics in Medicine

Volumn 8, Issue 3, 2006, Pages 169-174

  Barisani, Donatella ^a   Ceroni, Stefano ^a   Meneveri, Raffaella ^a   Cesana, Bruno M ^b   Bardella, Maria Teresa ^c  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Celiac disease; Cytokine polymorphisms; IFN gamma; IL 10; TNF alpha

Indexed keywords

CYTOKINE; GAMMA INTERFERON; HLA ANTIGEN CLASS 2; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 6; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR ALPHA;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CELIAC DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DUODENUM; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTESTINE INJURY; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; CASE CONTROL STUDY; COMPARATIVE STUDY; CONFIDENCE INTERVAL; GENETICS; HOSPITALIZATION; ITALY; MUCOSA; MULTIVARIATE ANALYSIS; PATHOLOGY; PREVALENCE; RETROSPECTIVE STUDY; RISK; STATISTICAL MODEL;

AGE OF ONSET; CASE-CONTROL STUDIES; CELIAC DISEASE; CONFIDENCE INTERVALS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; INTERLEUKIN-10; ITALY; LOGISTIC MODELS; MALE; MUCOUS MEMBRANE; MULTIVARIATE ANALYSIS; ODDS RATIO; POLYMORPHISM, GENETIC; PREVALENCE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX;

EID: 33645817910     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000204464.87540.39     Document Type: Article

References (40)

1. American Gastroenterological Association medical position statement: celiac sprue. Gastroenterology 2001;120:1522-1525.
2. Sollid LM. Coeliac disease: dissecting a complex inflammatory disorder. Nat. Rev. Immunol 2002;2:647-655.
3. Petronzelli F, Bonamico M, Ferrante P, Grille R, et al. Genetic contribution of the HLA region to the familial clustering of coeliac disease. Ann Hum Genet 1997;61:307-317.
4. van Heel DA, Hunt K, Greco L, Wijmenga C. Genetics in celiac disease. Best Pract Res Clin Gastroenterol 2005;19:323-339.
5. Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, et al. Genomewide search in anadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 2000;66:1863-1870.
6. Monsuur AJ, de Bakker PIW, Alizadeh BZ, Zhernakova A, et al. Myosin IZB variant increases the rish of celiac disease and points toward a primary intestinal barrier defect. Nat Genet 2005;37:1341-1344.
7. Rudd CE, Schneider H. Unifying concepts in CD28, ICOS and CTLA4 co-receptor signalling. Nat rev Immunol 2003;3:544-556.
8. Marsh MN. The morphology and immunopathology of the jejunal lesion in gluten sensitivity. Eur J Gastroenterol Hepatol 2001;3:163-168.
9. Buri C, Burri P, Bahler P, Straumann A, et al. Cytotoxic T-cells are preferentially activated in the duodenal epithelium from patients with florid coeliac disease. J Pathol 2005;206:178-185.
10. Maiuri L, Ciacci C, Ricciardelli I, Vacca L, et al. Association between innate response to gliadin and activation of pathogenic T-cells in coeliac disease. Lancet 2003;362:30-37.
11. Przemioslo RT, Kontakou M, Nobili V, Ciclitira PJ. Raised pro-inflammatory cytokines interleukin 6 and tumor necrosis factor α in coeliac disease mucosa detected by immunohistochemistry. Gut 1994;35:1037-1041.
12. Nilsen EM, Jahnsen FL, Lundin KE, Johansen FE, et al. Gluten induces an intestinal cytokine response strongly dominated by interferon gamma in patients with celiac disease. Gastroenterology 1998;115:551-563.
13. Salvati VM, Mazzarella G, Gianfrani C, Levings MK, et al. Recombinant human interleukin 10 suppresses gliadin dependent T-cell activation in ex vivo cultured coeliac intestinal mucosa. Gut 2005;54:46-53.
14. Hawiger J. Innate immunity and inflammation: a transcriptional paradigm. Immunol Res 2001;23:99-109.
15. Crawley E, Kay R, Sillibourne J, Patel P, et al. Polymorphic haplotypes of the interleukin-10 5′ flanking region determine variable interleukin-10 transcription and are associated with particular phenotypes of juvenile rheumatoid arthritis. Arthritis Rheum 1999;42:1101-1108.
16. Koss K, Satsangi J, Fanning GC, Welsh KI, et al. Cytokine (TNF alpha, LT alpha and IL-10) polymorphisms in inflammatory bowel diseases and normal controls: differential effects on production and allele frequencies. Genes Immun 2000;1:185-190.
17. Hulkkonen J, Pertovaara M, Antonen J, Pasternack A, et al. Elevated interleukin-6 plasma levels are regulated by the promoter region polymorphism of the IL6 gene in primary Sjogren's syndrome and correlate with the clinical manifestations of the disease. Rheumatology 2001;40:656-661.
18. Rad R, Dossumbekova A, Neu B, Lang R, et al. Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and host specific colonisation during Helicobacter pylori infection. Gut 2004;53:1082-1089.
19. McManus R, Wilson AG, Mansfield J, Weir DG, et al. 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;26:2113-2118.
20. Polvi A, Maki M, Collin P, Partanen J. TNF microsatellite alleles a2 and b3 are not primarily associated with celiac disease in the Finnish population. Tissue Antigens 1998;51:553-555.
21. de la Concha EG, Fernandez-Arquero M, Vigil P, Rubio A, et al. Celiac disease and TNF promoter polymorphisms. Hum Immunol 2000;61:513-517.
22. Garrote JA, Arranz E, Telleria JJ, Castro J, et al. TNF alpha and LT alpha gene polymorphisms as additional markers of celiac disease susceptibility in a DQ2-positive population. Immunogenetics 2002;54:551-555.
23. Hahn-Zoric M, Hytonen AM, Hanson LA, Nilsson LA, et al. Association of -1087 IL10 and -308 TNFA gene polymorphisms with serological markers of coeliac disease. J Clin Immunol 2003;23:291-296.
24. Cataldo F, Lio D, Marino V, Scola L, et al. Groups of the SIGEP and "Club del Tenue". Cytokine genotyping (TNF and IL-10) in patients with celiac disease and selective IgA deficiency. Am J Gastroenterol 2003;98:850-856.
25. Wolley N, Mustalahti K, Maki M, Partanen J. Cytokine gene polymorphisms and genetic association with coeliac disease in the Finnish population. Scand J Immunol 2005;61:51-56.
26. Garrote J, Arranz E, Gomez-Gonzalez E, Leon A, et al. IL6, IL10 and TGFB1 gene polymorphisms in celiac disease: differences between DQ2 positive and negative patients. Allergol Immunopathol 2005;33:245-249.
27. Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 1990;65:909-911.
28. Oberhuber G, Granditsch G, Vogelsang H. The histopathology of coeliac disease: time for a standardized report scheme for pathologists. Eur J Gastroenterol Hepatol 1999;11:1185-1194.
29. Fargion S, Valenti L, Dongiovanni P, Scaccabarozzi A, et al. Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis. Blood 2001;97:3707-3712.
30. Nemetz A, Toth M, Garcia-Gonzalez MA, Zagoni T, et al. Allelic variation at the interleukin 1 beta gene is associated with decreased bone mass in patients with inflammatory bowel diseases. Gut 2001;49:644-649.
31. Clay FE, Tarlow JK, Cork MJ, Cox A, et al. Novel interleukin-1 receptor antagonist exon polymorphisms and their use in allele-specific mRNA assessment. Hum Genet 1996;97:723-726.
32. Elston RC, Forthofer R. Testing for Hardy-Weinberg equilibrium in small samples. Biometrics 1997;33:536-542.
33. Hartl DL, Clark AG. Principles of population genetics. Second edition. Sunderland, MA; Sinauer Associates Inc. 1989;1-60.
34. Stephens M, Smith N, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001;68:978-989.
35. Pestka S, Krause CD, Sarkar D, Walter MR, et al. Interleukin 10 and related cytokines and receptors. Annu Rev Immunol 2004;22:929-979.
36. Luomala M, Lehtimaki T, Huhtala H, Ukkonen M, et al. Promoter polymorphism of IL-10 and severity of multiple sclerosis. Acta Neurol Scand 2003;108:396-400.
37. Bantis C, Heering PJ, Aker S, Klein-Vehne N, et al. Association of interleukin-10 gene G-1082A polymorphism with the progression of primary glomerulonephritis. Kidney Int 2004;66:288-294.
38. Freitag T, Schulze-Koops H, Niedobitek G, Melino G, et al. The role of the immune response against tissue transglutaminase in the pathogenesis of coeliac disease. Autoimmunity Reviews 2004;3:13-20.
39. Korponay-Szabò IR, Halttunen T, Szalai Z, Laurila K, et al. In vivo targeting of intestinal and extraintestinal transglutaminase 2 by coeliac autoantibodies. Gut 2004;53:641-648.
40. Ashwood P, Anthony A, Torrente F, Wakefield AJ. Spontaneous mucosal lymphocyte cytokine profiles in children with autism and gastrointestinal symptoms: mucosal immune activation and reduced counter regulatory interleukin-10. J Clin Immunol 2004;24:664-673.