Adaptive diagnosis of coeliac disease

Korponay-Szabó, Ilma Rita; Troncone, Riccardo; Discepolo, Valentina

doi:10.1016/j.bpg.2015.05.003

Cited by 20 publications

(20 citation statements)

References 91 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The most prominent response is expected in DQ2 homozygotes (including DQ2.5/DQ2.5) and in compound heterozygotes (DQ2.5/DQ2.2), who have a double dose of B1*0201 (Abraham & Inouye, 2015;Demarchi et al, 1983;Kupfer & Jabri, 2012;Margaritte-Jeannin et al, 2004;Pietzak et al, 2009;Rostami-Nejad et al, 2014). DQ2.5/DQX heterozygotes and those with DQ2.2/DQ7.5 genotype (so-called DQ2.5 trans) have a single dose of B1*02 allele (Korponay-Szabo et al, 2015;Mearin et al, 1983;Mubarak, Spierings, Wolters, van Hoogstraten et al, 2013).…”

Section: Discussionunclassified

See 1 more Smart Citation

HLA‐DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study

Bajor

Szakács

Juhász³

et al. 2019

Int J Immunogenetics

View full text Add to dashboard Cite

Background and purpose Magnitude of gluten‐specific T‐cell responses in coeliac disease (CD) might be dependent on HLA‐DQ2 gene dose. We aimed to investigate the effects of HLA‐DQB1*02 allele dose on clinical outcomes. Methods We reviewed the charts of all coeliac patients attending to three Hungarian university clinics after 1997 and included those patients, who (a) were diagnosed with CD, (b) underwent high‐resolution HLA typing and (c) were ≥18 years at the time of data collection. HLA typing was performed to determine DQB1*02 allele dose. Patients were divided into risk groups by DQB1*02 allele dose, as follows: high‐, intermediate‐ and low‐risk groups corresponded to a double, single and zero doses, respectively. We used ANOVA and Pearson's chi‐squared test to explore association between HLA risk and clinical variables. Results A total of 727 coeliac patients attended the clinics but only 105 (14.4%) patients were eligible for inclusion. High, intermediate and low HLA risk patients comprised 35.3%, 52.3% and 12.3% of the study population, respectively. Double dose of HLA‐DQB1*02 was more frequent in patient with high tTGA level (>10 times the upper limit of normal; p = 0.045). Gene dose was not associated with younger age at diagnosis (p = 0.549), gender (p = 0.739), more severe diagnostic histology (p = 0.318), more frequent classical presentation (p = 0.846), anaemia (p = 0.611), metabolic bone disease (p = 0.374), dermatitis herpetiformis (p = 0.381) and autoimmune diseases (p = 0.837). Conclusions Our study shows a significant gene dose effect in terms of tTGA level at diagnosis, but no significant association between HLA‐DQB1*02 allele dose and the clinical outcomes in CD.

show abstract

Section: Discussionunclassified

“…Nearly all (>99%) CD patients are positive for HLA-DQ2 and/or DQ8 (Abraham & Inouye, 2015;Korponay-Szabo, Troncone, & Discepolo, 2015).…”

Section: Introductionunclassified

HLA‐DQ2 homozygosis increases tTGA levels at diagnosis but does not influence the clinical phenotype of coeliac disease: A multicentre study

Bajor

Szakács

Juhász³

et al. 2019

Int J Immunogenetics

View full text Add to dashboard Cite

show abstract

“…Most notably, MAHMI Web-based interface enables the comparison of user-submitted amino acidic sequences against database contents and thus, it can be ideally used to identify peptides that may be used to manipulate altered immune responses. MAHMI has a clear application in the framework of IBD, but also in other immune-associated diseases where the gut microbiota plays a part, including Irritable Bowel Syndrome (20, 21), Celiac Disease (22, 23) and Type-1 Diabetes (24, 25). …”

Section: Introductionmentioning

confidence: 99%

MAHMI database: a comprehensive MetaHit-based resource for the study of the mechanism of action of the human microbiota

et al. 2017

View full text Add to dashboard Cite

The Mechanism of Action of the Human Microbiome (MAHMI) database is a unique resource that provides comprehensive information about the sequence of potential immunomodulatory and antiproliferative peptides encrypted in the proteins produced by the human gut microbiota. Currently, MAHMI database contains over 300 hundred million peptide entries, with detailed information about peptide sequence, sources and potential bioactivity. The reference peptide data section is curated manually by domain experts. The in silico peptide data section is populated automatically through the systematic processing of publicly available exoproteomes of the human microbiome. Bioactivity prediction is based on the global alignment of the automatically processed peptides with experimentally validated immunomodulatory and antiproliferative peptides, in the reference section. MAHMI provides researchers with a comparative tool for inspecting the potential immunomodulatory or antiproliferative bioactivity of new amino acidic sequences and identifying promising peptides to be further investigated. Moreover, researchers are welcome to submit new experimental evidence on peptide bioactivity, namely, empiric and structural data, as a proactive, expert means to keep the database updated and improve the implemented bioactivity prediction method. Bioactive peptides identified by MAHMI have a huge biotechnological potential, including the manipulation of aberrant immune responses and the design of new functional ingredients/foods based on the genetic sequences of the human microbiome. Hopefully, the resources provided by MAHMI will be useful to those researching gastrointestinal disorders of autoimmune and inflammatory nature, such as Inflammatory Bowel Diseases. MAHMI database is routinely updated and is available free of charge.Database URL: http://mahmi.org/

show abstract

“…Coeliac disease is a human autoimmune-like disorder characterized by chronic inflammation of the small intestine induced by proline-and glutamine-rich wheat gluten [94,95]. Coeliac disease is the result of complex interactions of genetic, environmental, and immunological factors [96]. Although coeliac disease is considered a prototype of T-cell mediated disease [96], the innate immune system can contribute to its pathogenesis.…”

mentioning

confidence: 99%

“…Coeliac disease is the result of complex interactions of genetic, environmental, and immunological factors [96]. Although coeliac disease is considered a prototype of T-cell mediated disease [96], the innate immune system can contribute to its pathogenesis. Frossi and collaborators' review has interesting results, indicating that mast cells and their mediators could play a role in the pathogenesis of coeliac disease [94].…”

mentioning

confidence: 99%