HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease

Scandinavian Journal of Gastroenterology

Volumn 42, Issue 1, 2007, Pages 48-53

  Jores, Rita Désirée ^a,d   Frau, Fulvia ^a   Cucca, Francesco ^c   Grazia Clemente, Maria ^a   Orrù, Sandra ^b   Rais, Marco ^b   De Virgiliis, Stefano ^a   Congia, Mauro ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b Territorial Department of Nephrology and Dialysis   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

^d Osp Regionale per le Microcitemie   (Italy)

Author keywords

Celiac disease; HLA; Intestinal mucosal atrophy

Indexed keywords

HLA DQB1 ANTIGEN; AUTOANTIBODY; HLA DQ ANTIGEN; HLA DQB1 0201 ANTIGEN;

AGE DISTRIBUTION; ALLELE; ARTICLE; CELIAC DISEASE; CHILD; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTESTINE BIOPSY; INTESTINE INJURY; IRON DEFICIENCY ANEMIA; IRON THERAPY; MAJOR CLINICAL STUDY; MALE; MALNUTRITION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; T LYMPHOCYTE; ADOLESCENT; ADULT; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; IMMUNOLOGY; INFANT; INTESTINE MUCOSA; MIDDLE AGED; ONSET AGE; PATHOLOGY; PRESCHOOL CHILD; SEX DIFFERENCE; SMALL INTESTINE;

ADOLESCENT; ADULT; AGE OF ONSET; AUTOANTIBODIES; CELIAC DISEASE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HLA-DQ ANTIGENS; HOMOZYGOTE; HUMANS; INFANT; INTESTINAL MUCOSA; INTESTINE, SMALL; MALE; MIDDLE AGED; SEX FACTORS;

EID: 33845954939     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.1080/00365520600789859     Document Type: Article

References (32)

1. Arentz-Hansen EH, McAdam SN, Molberg O, Kristiansen C, Sollid LM. Production of a panel of recombinant gliadins for the characterisation of T cell reactivity in coeliac disease. Gut 2000;46:46-51.
2. Arentz-Hansen H, Korner R, Molberg O, Quarsten H, Vader W, Kooy YM, et al. The intestinal T cell response to alpha-gliadin in adult celiac disease is focused on a single deamidated glutamine targeted by tissue transglutaminase. J Exp Med 2000;191:603-12.
3. Dieterich W, Storch WB, Schuppan D. Serum antibodies in celiac disease. Clin Lab 2000;46:361-4.
4. Konturek PC, Karczewska E, Dieterich W, Hahn EG, Schuppan D. Increased prevalence of Helicobacter pylori infection in patients with celiac disease. Am J Gastroenterol 2000;95:3682-3.
5. Kordonouri O, Dieterich W, Schuppan D, Webert G, Muller C, Sarioglu N, et al. Autoantibodies to tissue transglutaminase are sensitive serological parameters for detecting silent coeliac disease in patients with type 1 diabetes mellitus. Diabet Med 2000;17:441-4.
6. Schuppan D. Current concepts of celiac disease pathogenesis. Gastroenterology 2000;119:234-42.
7. Anderson RP, Degano P, Godkin AJ, Jewell DP, Hill AV. In vivo antigen challenge in celiac disease identifies a single transglutaminase-modified peptide as the dominant A-gliadin T-cell epitope. Nat Med 2000;6:337-42.
8. Shan L, Molberg O, Parrot I, Hausch F, Filiz F, Gray GM, et al. Structural basis for gluten intolerance in celiac sprue. Science 2002;297:2275-9.
9. Schuppan D, Hahn EG. Biomedicine: gluten and the gut-lesions for immune regulation. Science 2002;297:2218-20.
10. Sollid LM. Coeliac disease: dissecting a complex inflammatory disorder. Nat Rev Immunol 2002;2:647-55.
11. Vader W, Kooy Y, Van Veelen P, De Ru A, Harris D, Benckhuijsen W, et al. The gluten response in children with celiac disease is directed toward multiple gliadin and glutenin peptides. Gastroenterology 2002;122:1729-37.
12. Maiuri L, Ciacci C, Auricchio S, Brown V, Quaratino S, Londei M. Interleukin 15 mediates epithelial changes in celiac disease. Gastroenterology 2000;119:996-1006.
13. Meresse B, Chen Z, Ciszewski C, Tretiakova M, Bhagat G, Krausz TN, et al. Coordinated induction by IL15 of a TCR-independent NKG2D signaling pathway converts CTL into lymphokine-activated killer cells in celiac disease. Immunity 2004;21:357-66.
14. Hue S, Mention JJ, Monteiro RC, Zhang S, Cellier C, Schmitz J, et al. A direct role for NKG2D/MICA interaction in villous atrophy during celiac disease. Immunity 2004;21:367-77.
15. Catassi C, Doloretta Macis M, Ratsch IM, De Virgiliis S, Cucca F. The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence. Tissue Antigens 2001;58:402-6.
16. Meloni G, Dore A, Fanciulli G, Tanda F, Bottazzo GF. Subclinical coeliac disease in schoolchildren from northern Sardinia [letter]. Lancet 1999;353:37.
17. Meloni GF, Dessole S, Vargiu N, Tomasi PA, Musumeci S. The prevalence of coeliac disease in infertility. Hum Reprod 1999;14:2759-61.
18. Cucca F, Lampis R, Frau F, Macis D, Angius E, Masile P, et al. The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci. Hum Immunol 1995;43:301-8.
19. Cucca F, Muntoni F, Lampis R, Frau F, Argiolas L, Silvetti M, et al. Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Hum Immunol 1993;37:85-94.
20. Congia M, Cucca F, Frau F, Lampis R, Melis L, Clemente MG, et al. A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease. Hum Immunol 1994;40:138-42.
21. Ploski R, Ascher H, Sollid LM. HLA genotypes and the increased incidence of coeliac disease in Sweden. Scand J Gastroenterol 1996;31:1092-7.
22. Lewis C, Book L, Black J, Sawitzke A, Cannon-Albright L, Zone J, et al. Celiac disease and human leukocyte antigen genotype: accuracy of diagnosis in self-diagnosed individuals, dosage effect, and sibling risk. J Pediatr Gastroenterol Nutr 2000;31:22-7.
23. Zubillaga P, Vidales MC, Zubillaga I, Ormaechea V, Garcia-Urkia N, Vitoria JC. HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease. J Pediatr Gastroenterol Nutr 2002;34:548-54.
24. Karinen H, Karkkainen P, Pihlajamaki J, Janatuinen E, Heikkinen M, Julkunen R, et al. Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease. Scand J Gastroenterol 2006;41:191-9.
25. Greco L, Percopo S, Clot F, Bouguerra F, Babron MC, Eliaou JF, et al. Lack of correlation between genotype and phenotype in celiac disease. J Pediatr Gastroenterol Nutr 1998;26:286-90.
26. Ploski R, Ek J, Thorsby E, Sollid LM. On the HLA-DQ(alpha 1*0501, beta 1*0201)-associated susceptibility in celiac disease: a possible gene dosage effect of DQB1*0201. Tissue Antigens 1993;41:173-7.
27. Walker-Smith JA, Guandalini S, Schmitz J, Shmerling DH, Visakorpi JK. Revised criteria for diagnosis of coeliac disease. Report of theWorking Group of the European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 1990;65:909-11.
28. Clemente MG, Musu MP, Frau F, Brusco G, Sole G, Corazza GR, et al. Immune reaction against the cytoskeleton in coeliac disease. Gut 2000;47:520-6.
29. Clemente MG, Musu MP, Troncone R, Volta U, Congia M, Ciacci C, et al. Enterocyte actin autoantibody detection: a new diagnostic tool in celiac disease diagnosis: results of a multicenter study. Am J Gastroenterol 2004;99:1551-6.
30. Marsh MN, Crowe PT. Morphology of the mucosal lesion in gluten sensitivity. Baillieres Clin Gastroenterol 1995;9:273-93.
31. Oberhuber G. Histopathology of celiac disease. Biomed Pharmacother 2000;54:368-72.
32. Vader W, Stepniak D, Kooy Y, Mearin L, Thompson A, van Rood JJ, et al. The HLA-DQ2 gene dose effect in celiac disease is directly related to the magnitude and breadth of gluten-specific T cell responses. Proc Natl Acad Sci USA 2003;100:12390-5.