DQA1*0102 DQB1*0602 haplotype distinguishes coeliac disease and its complications from gluten unrelated enteropathies.
Journal
European journal of gastroenterology & hepatology
ISSN: 1473-5687
Titre abrégé: Eur J Gastroenterol Hepatol
Pays: England
ID NLM: 9000874
Informations de publication
Date de publication:
01 01 2023
01 01 2023
Historique:
entrez:
5
12
2022
pubmed:
6
12
2022
medline:
7
12
2022
Statut:
ppublish
Résumé
Duodenal villous atrophy is due not only to coeliac disease and its complications but also to other rare enteropathies unrelated to gluten consumption, defined as noncoeliac enteropathies. The diagnosis of noncoeliac enteropathies remains challenging, and HLA typing has been widely used to exclude coeliac disease if DQ2 and DQ8 alleles are absent. However, the frequency of the various HLA alleles in noncoeliac enteropathies is still unknown. To describe the HLA genetic profile of patients affected by noncoeliac enteropathies who have been evaluated at our centres between 2000 and 2021, and to investigate the diagnostic role of HLA typing. Genomic DNA was collected from 44 Italian and 19 British adult patients with noncoeliac enteropathies. Patient genotypes were compared with those of healthy Italian and British populations obtained from HLA bone marrow donors' banks. In addition, genotypes were also compared with those of patients with coeliac disease and complicated coeliac disease. Both in the Italian and in the British group, the DQA1*0102 DQB1*0602 haplotype and related alleles occurred significantly more frequently in patients with noncoeliac enteropathies compared to coeliac disease and complicated coeliac disease. Together with negative HLA-DQ2 and DQ8 haplotypes, the DQA1*0102 DQB1*0602 haplotype can be used to guide the differential diagnosis between coeliac disease and noncoeliac enteropathies.
Sections du résumé
BACKGROUND
Duodenal villous atrophy is due not only to coeliac disease and its complications but also to other rare enteropathies unrelated to gluten consumption, defined as noncoeliac enteropathies. The diagnosis of noncoeliac enteropathies remains challenging, and HLA typing has been widely used to exclude coeliac disease if DQ2 and DQ8 alleles are absent. However, the frequency of the various HLA alleles in noncoeliac enteropathies is still unknown.
AIMS
To describe the HLA genetic profile of patients affected by noncoeliac enteropathies who have been evaluated at our centres between 2000 and 2021, and to investigate the diagnostic role of HLA typing.
METHODS
Genomic DNA was collected from 44 Italian and 19 British adult patients with noncoeliac enteropathies. Patient genotypes were compared with those of healthy Italian and British populations obtained from HLA bone marrow donors' banks. In addition, genotypes were also compared with those of patients with coeliac disease and complicated coeliac disease.
RESULTS
Both in the Italian and in the British group, the DQA1*0102 DQB1*0602 haplotype and related alleles occurred significantly more frequently in patients with noncoeliac enteropathies compared to coeliac disease and complicated coeliac disease.
CONCLUSIONS
Together with negative HLA-DQ2 and DQ8 haplotypes, the DQA1*0102 DQB1*0602 haplotype can be used to guide the differential diagnosis between coeliac disease and noncoeliac enteropathies.
Identifiants
pubmed: 36468571
doi: 10.1097/MEG.0000000000002480
pii: 00042737-202301000-00009
doi:
Substances chimiques
Glutens
8002-80-0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
64-72Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
Références
Schiepatti A, Sanders DS, Baiardi P, Caio G, Ciacci C, Kaukinen K, et al. Nomenclature and diagnosis of seronegative coeliac disease and chronic non-coeliac enteropathies in adults: the Paris consensus. Gut 2022; 71:2218–2225.
Volta U, Caio G, Boschetti E, Giancola F, Rhoden KJ, Ruggeri E, et al. Seronegative celiac disease: shedding light on an obscure clinical entity. Dig Liver Dis 2016; 48:1018–1022.
Leonard MM, Lebwohl B, Rubio-Tapia A, Biagi F. AGA clinical practice update on the evaluation and management of seronegative enteropathies: expert review. Gastroenterology 2021; 160:437–444.
Jansson-Knodell CL, Murray JA, Rubio-Tapia A. Management of small bowel villous atrophy in patients seronegative for celiac disease. Am J Gastroenterol 2020; 115:4924927–4924497.
Schiepatti A, Sanders DS, Aziz I, De Silvestri A, Goodwin J, Key T, et al. Clinical phenotype and mortality in patients with idiopathic small bowel villous atrophy: a dual centre international study. Eur J Gastroenterol Hepatol 2020; 32:938–949.
Schiepatti A, Rej A, Maimaris S, Cross SS, Porta P, Aziz I, et al. Clinical classification and long-term outcomes of seronegative coeliac disease: a 20-year multicenter follow-up study. Aliment Pharm Ther 2021; 54:1278–1289.
Lewis NR, Scott BB. Systematic review: the use of serology to exclude or diagnose coeliac disease (a comparison of the endomysial and tissue transglutaminase antibody tests). Aliment Pharmacol Ther 2006; 24:47–54.
Aziz I, Peerally MF, Barnes JH, Kandasamy V, Whiteley JC, Partridge D, et al. The clinical and phenotypical assessment of seronegative villous atrophy; a prospective UK centre experience evaluating 200 adult cases over a 15-year period (2000-2015). Gut 2017; 66:1563–1572.
Corazza GR, Biagi F, Volta U, Andreani ML, De Franceschi L, Gasbarrini G. Autoimmune enteropathy and villous atrophy in adults. Lancet 1997; 350:106–109.
Malamut G, Verkarre V, Suarez F, Viallard JF, Lascaux AS, Cosnes J, et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol 2010; 105:2262–2275.
Rubio-Tapia A, Herman ML, Ludvigsson JF, Kelly DG, Mangan TF, Wu TT, et al. Severe spruelike enteropathy associated with olmesartan. Mayo Clin Proc 2012; 87:732–738.
Martinetti M, Degioanni A, D’Aronzo AM, Benazzi E, Carpanelli R, Castellani L, et al. An immunogenetic map of Lombardy (Northern Italy). Ann Hum Genet 2002; 66:37–48.
Biagi F, Bianchi PI, Vattiato C, Marchese A, Trotta L, Badulli C, et al. The influence of HLA-DQ2 and DQ8 on severity in celiac disease. J Clin Gastroenterol 2012; 46:46–50.
Martinetti M, Biagi F, Badulli C, Feurle GE, Müller C, Moos V, et al. The HLA alleles DRB1*13 and DQB1*06 are associated to Whipple’s disease. Gastroenterology 2009; 136:2289–2294.
Lenti MV, Biagi F, Lucioni M, Di Sabatino A, Paulli M, Corazza GR. Two cases of monomorphic epitheliotropic intestinal T-cell lymphoma associated with coeliac disease. Scand J Gastroenterol 2019; 54:965–968.
Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood 2016; 127:2375–2390.
Malamut G, Afchain P, Verkarre V, Lecomte T, Amiot A, Damotte D, et al. Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II. Gastroenterology 2009; 136:81–90.
Penny HA, Baggus EMR, Rej A, Snowden JA, Sanders DS. Non-responsive coeliac disease: a comprehensive review from the NHS England National Centre for Refractory Coeliac Disease. Nutrients 2020; 12:216.
Olerup O, Zetterquist H. HLA-DRB1*01 subtyping by allele-specific PCR amplification: a sensitive, specific and rapid technique. Tissue Antigens 1991; 37:197–204.
Jordan F, McWhinnie AJ, Turner S, Gavira N, Calvert AA, Cleaver SA, et al. Comparison of HLA-DRB1 typing by DNA-RFLP, PCR-SSO and PCR-SSP methods and their application in providing matched unrelated donors for bone marrow transplantation. Tissue Antigens 1995; 45:103–110.
Greenacre M. Correspondence analysis in medical research. Stat Methods Med Res 1992; 1:97–117.
Biagi F, Bianchi PI, Zilli A, Marchese A, Luinetti O, Lougaris V, et al. The significance of duodenal mucosal atrophy in patients with common variable immunodeficiency: a clinical and histopathologic study. Am J Clin Pathol 2012; 138:185–189.
Akram S, Murray JA, Pardi DS, Alexander GL, Schaffner JA, Russo PA, et al. Adult autoimmune enteropathy: Mayo Clinic Rochester experience. Clin Gastroenterol Hepatol 2007; 5:1282–90; quiz 1245.
Costetti M, Schiepatti A, Fraticelli S, Costa S, Maimaris S, Lenti MV, et al. Clinical and gastro-duodenal histopathological features of enteropathy due to angiotensin II receptor blockers. Dig Liver Dis 2021; 53:1262–1267.
Jørgensen SF, Reims HM, Frydenlund D, Holm K, Paulsen V, Michelsen AE, et al. A cross-sectional study of the prevalence of gastrointestinal symptoms and pathology in patients with common variable immunodeficiency. Am J Gastroenterol 2016; 111:1467–1475.
Brown IS, Bettington A, Bettington M, Rosty C. Tropical sprue: revisiting an underrecognized disease. Am J Surg Pathol 2014; 38:666–672.
Schiepatti A, Biagi F, Fraternale G, Vattiato C, Balduzzi D, Agazzi S, et al. Mortality and differential diagnoses of villous atrophy without coeliac antibodies. Eur J Gastroenterol Hepatol 2017; 29:572–576.
Schiepatti A, Sanders DS, Zuffada M, Luinetti O, Iraqi A, Biagi F. Overview in the clinical management of patients with seronegative villous atrophy. Eur J Gastroenterol Hepatol 2019; 31:409–417.
Al-Toma A, Goerres MS, Meijer JW, Peña AS, Crusius JB, Mulder CJ. Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy associated T-cell lymphoma. Clin Gastroenterol Hepatol 2006; 4:315–319.
Pensieri MV, Pulvirenti F, Schiepatti A, Maimaris S, Lattanzio S, Quinti I, et al. The high mortality of patients with common variable immunodeficiency and small bowel villous atrophy. Scand J Gastroenterol 2019; 54:164–168.
DeGaetani M, Tennyson CA, Lebwohl B, Lewis SK, Abu Daya H, Arguelles-Grande C, et al. Villous atrophy and negative celiac serology: a diagnostic and therapeutic dilemma. Am J Gastroenterol 2013; 108:647–653.
Rayner ML, Kelly MA, Mijovic CH, Barnett AH. Sequencing of the second exon of the MHC class II DQ6 alleles in patients with type 1 diabetes. Autoimmunity 2002; 35:155–157.