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Screening for coeliac disease in 1624 mainly asymptomatic children with type 1 diabetes: is genotyping for coeliac-specific human leucocyte antigen the right approach?
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  • Published on:
    Relevance of specific HLA-DQ allelic components in the screening strategies for pediatric Celiac Disease
    • Dimitri Poddighe, Assistant Professor of Pediatrics Nazarbayev University School of Medicine
    • Other Contributors:
      • Cristina Capittini, Geneticist - Epidemiologist

    We read with interest the recent article published by Binder E et al. [1], describing the HLA-DQ analysis performed in 1624 asymptomatic children affected with type I Diabetes Mellitus (DMT1), in order to assess their predisposition to develop Celiac Disease (CD). They reported that 1344 (82.8%) patients resulted to be "HLA-DQ2 and/or -DQ8 positive", whereas 280 (17.2%) were negative: among the former group, a biopsy-proven CD diagnosis was documented in 3.6% of cases and, interestingly, even 7 patients in the second group (corresponding to 2.5%) resulted to be celiac. [1]
    Thus, these two percentages are not so different and one might conclude that the HLA-DQ asset is not a necessary - even if not sufficient - genetic background, contrary to what is well known. [2] Indeed, the absence of alleles coding MHC-DQ2 and/or MHC-DQ8 heterodimers, is associated with an almost absolute negative predictive value with respect to CD. Therefore, in order to solve this apparent mismatch, it would be useful if the authors can show the complete and high-resolution HLA-DQA1 and, in particular, HLA-DQB1 typing: indeed, these 7 “HLA-DQ2 and/or -DQ8 negative” CD children may not carry all alleles coding any complete MHC-DQ2 and/or MHC-DQ8 molecule, but they may have one or two allelic variants conferring CD risk anyway, such as HLA-DQB1*02, which codes the beta chain of MHC-DQ2 heterodimer. Indeed, according to several studies, the isolate presence of one or two copies of this...

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    Conflict of Interest:
    None declared.