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The frequency of HLA-DQ7 in patients at risk of coeliac disease: A haplotype to be reckoned with for screening?

Hum Immunol

November 2024

Amsterdam UMC, Vrije Universiteit Amsterdam, Medical Immunology Laboratory, Department of Clinical Chemistry, Amsterdam Infection and Immunity Institute, Amsterdam, The Netherlands.

Article Synopsis
  • * This study analyzed 3,983 patients at risk for CD over four years, focusing on those who were HLA-DQ7 positive but negative for HLA-DQ2/DQ8.
  • * Only one patient was diagnosed with CD among the 325 suitable for analysis, suggesting that HLA-DQ7 typing may not be necessary for routine screening in high-risk populations like those in the Netherlands, although it could be useful in cases with a strong suspicion of CD.
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Although people with human leukocyte antigens (HLA) DQ2 and/or DQ8 are more likely to develop celiac disease (CD), the condition cannot be fully explained by this genetic predisposition alone. Multiple, as yet unidentified, factors contribute to the genesis of CD, including genetics, the environment, and the immune system. In order to provide insight into a prospective possibility and an expanded screening technique, we aim to undertake a comprehensive and meta-analytical study of the assessment and distribution of HLA class II (HLA-DQ2/DQ8) in adult CD patients.

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HLA Genotyping in Romanian Adult Patients with Celiac Disease, their First-degree Relatives and Healthy Persons.

J Gastrointestin Liver Dis

June 2022

Carol Davila University of Medicine and Pharmacy, Centre of Immunogenetics and Virology, Clinical Fundeni Institute, Bucharest, Romania.

Background And Aims: Celiac disease is characterized by an inappropriate T-cell-mediated response to gluten in small bowel in genetically predisposed individuals, carriers of the DQ2 and/or DQ8 haplotypes of the human leukocyte antigen. The aim of our study was to asses HLA typing in adult patients with celiac disease, in their first degree relatives and in a healthy control group.

Methods: We conducted a prospective observational study on three cohorts: 117 patients diagnosed with celiac disease, 41 first-degree relatives of celiac patients and 57 asymptomatic healthy volunteers.

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Coeliac disease re-screening among once seronegative at-risk relatives: A long-term follow-up study.

United European Gastroenterol J

July 2022

Celiac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.

Background: Serological screening of the relatives of coeliac disease patients is widely endorsed. However, the need for and the optimal timing of possible re-testing of once seronegative at-risk individuals for coeliac disease remain unclear.

Objective: We investigated this issue by inviting a large cohort of previously screening-negative relatives of patients with coeliac disease to participate in a follow-up study.

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Patients with type 1 diabetes (T1D) are at increased risk for developing celiac disease (CD). The aim of the study was to assess the usefulness of celiac-specific human leukocyte antigen (HLA) haplotype and the rs3130484 variant of MSH5 gene, a previously described non-HLA variant associated with CD in the Polish population as a first-line screening for CD in T1D pediatric patients. Serological CD screening performed in the T1D group ( = 248) and healthy controls ( = 551) allowed for CD recognition in 20 patients (8.

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