HLA‐DQB1*02 Allele in First‐degree Relatives of Patients With Celiac Disease

Dimitri Poddighe

2019

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DOI 10.1097/mpg.0000000000002475
Data confidence 70 medium
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Abstract

To the Editor: The recent article published by Lopes et al (1) investigated the frequency of celiac disease (CD) in the first-degree relatives (FDR) of affected patients and their HLA genetic predisposition. There are 2 specific findings from this study, that captured my attention, in light of the results of previous studies published by our group. First, the authors found that the odds ratio (OR) for CD in their FDR cohort was equal to 5.1 for HLA-DQB1∗02 homozygous patients, compared to otherwise genetically predisposed FDR. Through a meta-analysis, we reported a risk gradient to develop CD according to the HLA genetic background, whereby the highest risk was displayed by the carriers of a double copy of the HLA-DQB1∗02 allele (OR = 5.3–5.4 compared to the general pediatric population). Actually, we found that a single copy of HLA-DQB1∗02 had an OR that is not much lower (OR = 3.9–4.6, depending on the remaining HLA-DQ profile) (2). In the present study, it would be an interesting completion to compare the OR between these specific populations of FDR. Second, all 7 FDR patients with CD seem to be carriers of at least 1 copy of the HLA-DQB1∗02 allele, but this is not completely clear from the text, where the authors refer to “nonhomozygous” individuals. Indeed, our group suggested that, among genetically susceptible children, almost all children with CD are carriers of at least 1 copy of the HLA-DQB1∗02 allele (>95%, probably) (2,3). This knowledge may have some practical impact for CD screening strategies, if further supported by additional, larger and independent studies.