HLA DQ2 AND DQ8 HOMOZYGOSITY IN PATIENTS WITH POTENTIAL COELIAC DISEASE

2009 ◽  
Vol 41 ◽  
pp. S6-S7
Author(s):  
F. Biagi ◽  
P.I. Bianchi ◽  
C. Vattiato ◽  
A. Marchese ◽  
L. Trotta ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Hla Dq2

HLA-DQ2 and/or-DQ9 is associated with coeliac disease specific autoantibodies to tissue transglutaminase in families with thyrold autoimmunity

2001 ◽  
Vol 120 (5) ◽  
pp. A393-A393
Author(s):  
D SCHUPPAN ◽  
W DIETERICH ◽  
S HOFMANN ◽  
M HUEFNER ◽  
K USADEL ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Tissue Transglutaminase ◽  
Disease Specific ◽  
Hla Dq2

scholarly journals Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity

2009 ◽  
Vol 160 (4) ◽  
pp. 675-679 ◽  
Author(s):  
Amy R Frost ◽  
Margaret M Band ◽  
Gerard S Conway
Keyword(s):  
Coeliac Disease ◽  
Adult Population ◽  
Duodenal Biopsy ◽  
Hla Typing ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Asymptomatic Patients ◽  
Cluster Of Differentiation ◽  
Hla Dq2 ◽  
Endomysium Antibody

ObjectiveTo investigate the prevalence of coeliac disease (CD) in an adult population with Turner's syndrome (TS).DesignA clinic population with TS was screened using a serological test for CD.MethodsTwo hundred and fifty six patients with TS were included in the study. Five patients had existing diagnoses of CD. The remaining 251 asymptomatic patients were screened using an IgA endomysium antibody (EMA) test. Positive cases were offered endoscopy with duodenal biopsy. HLA typing was undertaken in existing cases and new EMA-positive cases.ResultsOf the 251 patients screened, eight were found to be EMA positive (3.2%). Seven patients proceeded to duodenal biopsy on which all were confirmed histologically to have cluster of differentiation (2.8%). The prevalence of subclinical cluster of differentiation in the population can therefore be estimated between 2.8 and 3.2%. The total population prevalence of CD, including the previously diagnosed cases, is estimated between 4.7 and 5.1%. Ten patients with histologically confirmed cluster of differentiation underwent HLA typing of which eight were HLA-DQ2 positive, one was HLA-DQ8 positive and one was negative to both HLA-DQ2 and HLA-DQ8.ConclusionsThis study demonstrates an increased prevalence of cluster of differentiation in an adult population with TS over the general population. This is consistent with previous data published in paediatric populations.

scholarly journals Gliadin Specific, HLA DQ2‐Restricted T Cells are Commonly Found in Small Intestinal Biopsies from Coeliac Disease Patients, but not from Controls

1997 ◽  
Vol 46 (3) ◽  
pp. 103-109 ◽  
Author(s):  
Ø . MOLBERG ◽  
K. KETT ◽  
H. SCOTT ◽  
E. THORSBY ◽  
L. M. SOLLID ◽  
...  
Keyword(s):  
T Cells ◽  
Coeliac Disease ◽  
Small Intestinal ◽  
Hla Dq2

P0453 COELIAC DISEASE AND HLA DQ2/8: A WEEKER ASSOCIATION IN PATIENTS TESTED NEGATIVE FOR ANTIENDOMISIUM ANTIBODIES

2004 ◽  
Vol 39 (Supplement 1) ◽  
pp. S228
Author(s):  
V. Baldas ◽  
A. Taddio ◽  
S. Berthrand ◽  
A. Franzil ◽  
A. Amoroso ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Hla Dq2

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

2019 ◽  
Vol 46 (2) ◽  
pp. 74-81 ◽  
Author(s):  
Judit Bajor ◽  
Zsolt Szakács ◽  
Márk Juhász ◽  
Mária Papp ◽  
Dorottya Kocsis ◽  
...  
Keyword(s):  
Multicentre Study ◽  
Coeliac Disease ◽  
Clinical Phenotype ◽  
Hla Dq2

Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease

2017 ◽  
Vol 62 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Siba P Paul ◽  
Matthew Hoghton ◽  
Bhupinder Sandhu
Keyword(s):  
Small Bowel ◽  
Coeliac Disease ◽  
Tissue Transglutaminase ◽  
Caucasian Population ◽  
European Guidelines ◽  
Upper Limit ◽  
Poor Understanding ◽  
Very High ◽  
Hla Dq2

The European guidelines for diagnosing coeliac disease in children were revised in 2012. These recommend that in symptomatic children, a diagnosis of coeliac disease can be made without small-bowel biopsies provided their anti-tissue transglutaminase (anti-tTG) titre is >10 times of upper-limit-of-normal (>10×ULN) and anti-endomysial antibody is positive. In order to firm up the diagnosis in these children with very high anti-tTG titre, HLA-DQ2/DQ8 should be checked and be positive. Approximately 25–40% of white Caucasian population has HLA-DQ2/DQ8 haplotype. However, only 0.1–1% of the population will develop coeliac disease. Therefore, HLA-DQ2/DQ8 testing must not be done to ‘screen’ or ‘diagnose’ children with coeliac disease. Its use by paediatricians should be limited to children with anti-tTG>10×ULN, where the diagnosis of coeliac disease is being made on serology alone. A review of case referrals made to a tertiary paediatric gastroenterology centre in Southwest England demonstrated that HLA-DQ2/DQ8 testing is being requested inappropriately both in primary and secondary care suggesting a poor understanding of its role in diagnosis of coeliac disease. This article aims to clarify the role of HLA-DQ2/DQ8 testing for clinicians working in non-specialist settings.

High rates of variation in HLA-DQ2/DQ8 testing for coeliac disease: results from an RCPAQAP pilot program

2018 ◽  
Vol 71 (10) ◽  
pp. 900-905 ◽  
Author(s):  
Martin Patrick Horan ◽  
Sze Yee Chai ◽  
Nalishia Munusamy ◽  
Kwang Hong Tay ◽  
Louise Wienholt ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Coeliac Disease ◽  
Hla Typing ◽  
Clinical Interpretation ◽  
Histological Criteria ◽  
Human Leucocyte Antigens ◽  
Clinically Significant ◽  
Hla Dqa1 ◽  
Recommended Guidelines ◽  
Hla Dq2

AimCoeliac disease(CD) is a highly prevalent, gluten-dependent, autoimmune enteropathy. While the diagnosis is based on serological and histological criteria, genotyping of the human leucocyte antigens (HLA) DQ2 and DQ8 has been shown to have substantial clinical utility, especially in excluding the diagnosis in patients who do not carry either antigen. As a result, HLA genotyping is now being performed by more laboratories and has recently become one of the most frequently requested genetic tests in Australia. To date, there has been little scrutiny on the accuracy and reporting of results by laboratories new to HLA typing. In response to clinician feedback that identified potentially clinically significant discrepancies in HLA typing results, the Royal College of Pathologists of Australasia Quality Assurance Programs (RCPAQAP) undertook a pilot study to assess laboratory performance in the detection of HLA-DQ2/DQ8 and their associated HLA-DQA1 and HLA-DQB1 alleles.MethodsDNA was extracted from 5 patients and sent to 10 laboratories for external quality assurance (EQA) testing. Laboratories were assessed for reporting in genotyping, interpretation and methodology.ResultsOur findings showed that at least 80% of laboratories underperform with respect to recommended guidelines for HLA typing and reporting for CD, with 40% of laboratories failing to provide any clinical interpretation or full genotyping data. This suboptimal level of reporting may lead to ambiguities for downstream clinical interpretation that may compromise patient management.ConclusionsThese findings highlight the importance of adherence to standardised guidelines for optimal performance and reporting of HLA results and substantiate the need for EQA and proficiency testing for laboratories providing this service.

scholarly journals Prevalence of positive coeliac disease serology and HLA risk genotypes in a multiethnic population of adults in Canada: a cross-sectional study

BMJ Open ◽  
2017 ◽  
Vol 7 (10) ◽  
pp. bmjopen-2017-017678 ◽  
Author(s):  
Joseph Jamnik ◽  
Christopher R Villa ◽  
Sirbarinder Bryn Dhir ◽  
David J A Jenkins ◽  
Ahmed El-Sohemy
Keyword(s):  
Coeliac Disease ◽  
Genetic Risk ◽  
South Asians ◽  
Autoimmune Disorder ◽  
Risk Groups ◽  
Cross Sectional Study ◽  
European Ancestry ◽  
Nucleotide Polymorphisms ◽  
Cross Sectional ◽  
Hla Dq2

ObjectivesCoeliac disease (CD) is a complex autoimmune disorder with known genetic risk factors. Approximately 1% of individuals of European ancestry have CD, but the prevalence among different ethnicities living in Canada remains unknown. The objective of the present study was to determine the prevalence of positive CD serology in a population of Canadian adults living in Toronto, and to determine whether the prevalence of CD seropositivity and predisposing human leucocyte antigen (HLA)-DQ2/DQ8 risk genotypes differ between major ethnocultural groups.DesignCross-sectional screening study of participants from the Toronto Nutrigenomics and Health and the Toronto Healthy Diet studies.SettingUniversity campus and households across Toronto, Canada.Participants: free-livingAdults (n=2832) of diverse ethnocultural backgrounds.Main outcome measuresPrevalence of positive CD serology was determined by screening for antitissue transglutaminase antibodies in individuals with predisposing HLA-DQ2/DQ8 genotypes. HLA genotypes were determined using six single nucleotide polymorphisms in the HLA gene region.ResultsOf the 2832 individuals screened, a total of 25 (0.88%; 95% CI 0.57% to 1.30%) were determined to have positive CD serology. The majority of seropositive CD cases were undiagnosed (87%). Prevalence was highest among Caucasians (1.48%; 95% CI 0.93% to 2.23%), and similar in those of ‘Other’ (0.74%; 95% CI 0.09% to 2.63%) or ‘Unknown’ (0.43; 95% CI 0.01% to 2.36%) ethnicity. No cases of positive CD serology were identified among East Asian or South Asian individuals. East Asians had a lower prevalence of HLA risk genotypes than Caucasians and South Asians (p<0.005).ConclusionsThe prevalence of positive CD serology among Canadian adults living in Toronto is likely ~1%, with 87% of cases being undiagnosed. These findings suggest the need for better screening in high genetic risk groups.Trial registration numberNCT00516620; Post-results.

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