Contribution of histological, serological, and genetic factors to the clinical heterogeneity of adult-onset coeliac disease

References

• Green PH, Cellier C. Celiac disease. N Engl J Med 2007; 357: 1731–43
   PubMed Web of Science ®Google Scholar
• Raki M, Fallang LE, Brottveit M, Bergseng E, Quarsten H, Lundin KE, et al. Tetramer visualization of gut-homing gluten-specific T cells in the peripheral blood of celiac disease patients. Proc Natl Acad Sci USA 2007; 104: 2831–6
   PubMed Web of Science ®Google Scholar
• Hin H, Bird G, Fisher P, Mahy N, Jewell D. Coeliac disease in primary care: case finding study. Br Med J 1999; 318: 164–7
   PubMed Web of Science ®Google Scholar
• Rewers M. Epidemiology of celiac disease: what are the prevalence, incidence, and progression of celiac disease?. Gastroenterology 2005; 128: S47–51
   PubMed Web of Science ®Google Scholar
• Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum Immunol 2003; 64: 469–77
   PubMed Web of Science ®Google Scholar
• van de Wal Y, Kooy YM, Drijfhout JW, Amons R, Papadopoulos GK, Koning F. Unique peptide binding characteristics of the disease-associated DQ(alpha 1*0501, beta 1*0201) vs the non-disease-associated DQ(alpha 1*0201, beta 1*0202) molecule. Immunogenetics 1997; 46: 484–92
   PubMed Web of Science ®Google Scholar
• Brar, P, Kwon, GY, Egbuna, II, Holleran, S, Ramakrishnan, R, Bhagat, G, , et al. Lack of correlation of degree of villous atrophy with severity of clinical presentation of coeliac disease. Dig Liver Dis 2007;39:26–9; discussion 30–2.
   PubMedGoogle Scholar
• Louka AS, Nilsson S, Olsson M, Talseth B, Lie BA, Ek J, et al. HLA in coeliac disease families: a novel test of risk modification by the “other” haplotype when at least one DQA1*05-DQB1*02 haplotype is carried. Tissue Antigens 2002; 60: 147–54
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Fernandez-Arquero M, Figueredo MA, Maluenda C, de la Concha EG. HLA-linked genes acting as additive susceptibility factors in celiac disease. Hum Immunol 1995; 42: 295–300
   PubMed Web of Science ®Google Scholar
• Ploski R, Ascher H, Sollid LM. HLA genotypes and the increased incidence of coeliac disease in Sweden. Scand J Gastroenterol 1996; 31: 1092–7
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Mustalahti K, Holopainen P, Karell K, Maki M, Partanen J. Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families. Dig Liver Dis 2002; 34: 842–5
   PubMedGoogle Scholar
• Pena-Quintana L, Torres-Galvan MJ, Deniz-Naranjo MC, Ortigosa-Castillo L, Ramos-Varela JC, Calvo-Hernandez F, et al. Assessment of the DQ heterodimer test in the diagnosis of celiac disease in the Canary Islands (Spain). J Pediatr Gastroenterol Nutr 2003; 37: 604–8
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Jores RD, Frau F, Cucca F, Grazia Clemente M, Orru S, Rais M, et al. HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease. Scand J Gastroenterol 2007; 42: 48–53
   PubMed Web of Science ®Google Scholar
• Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR, et al. HLA DQ gene dosage and risk and severity of celiac disease. Clin Gastroenterol Hepatol 2007; 5: 1406–12
   PubMed Web of Science ®Google Scholar
• Marsh MN. Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity (“celiac sprue”). Gastroenterology 1992; 102: 330–54
   PubMed Web of Science ®Google Scholar
• Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. Report of a WHO study group. World Health Organ Tech Rep Ser. 1994;843:1–129.
   Google Scholar
• Oberhuber, G, Granditsch, G, Vogelsang, H. The histopathology of coeliac disease: time for a standardized report scheme for pathologists. Eur J Gastroenterol Hepatol Oct, 1999;11:1185–94.
   PubMed Web of Science ®Google Scholar
• Langham S, Thorogood M, Normand C, Muir J, Jones L, Fowler G. Costs and cost effectiveness of health checks conducted by nurses in primary care: the Oxcheck study. Br Med J 1996; 312: 1265–8
   PubMed Web of Science ®Google Scholar
• Welsh K, Bunce M. Molecular typing for the MHC with PCR-SSP. Reviews Immunogenetics 1999; 1: 157–76
   PubMedGoogle Scholar
• van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007; 39: 827–9
   PubMed Web of Science ®Google Scholar
• Ciacci C, Cirillo M, Sollazzo R, Savino G, Sabbatini F, Mazzacca G. Gender and clinical presentation in adult celiac disease. Scand J Gastroenterol 1995; 30: 1077–81
   PubMed Web of Science ®Google Scholar
• Boger CP, Thomas PW, Nicholas DS, Surgenor SL, Snook JA. Determinants of endomysial antibody status in untreated coeliac disease. Eur J Gastroenterol Hepatol 2007; 19: 890–5
   PubMed Web of Science ®Google Scholar
• Salmi TT, Collin P, Korponay-Szabo IR, Laurila K, Partanen J, Huhtala H, et al. Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut 2006; 55: 1746–53
   PubMed Web of Science ®Google Scholar
• Qiao SW, Bergseng E, Molberg O, Jung G, Fleckenstein B, Sollid LM. Refining the rules of gliadin T cell epitope binding to the disease-associated DQ2 molecule in celiac disease: importance of proline spacing and glutamine deamidation. J Immunol 2005; 175: 254–61
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Vermeulen BA, Hogen Esch CE, Yuksel Z, Koning F, Verduijn W, Doxiadis II, et al. Phenotypic variance in childhood coeliac disease and the HLA-DQ/DR dose effect. Scand J Gastroenterol 2009; 44: 40–5
   PubMed Web of Science ®Google Scholar
• Wolters VM, Wijmenga C. Genetic background of celiac disease and its clinical implications. Am J Gastroenterol 2008; 103: 190–5
   PubMed Web of Science ®Google Scholar
• Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, et al. Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet 2008; 40: 395–402
   PubMed Web of Science ®Google Scholar