Background and Aim: Human leukocyte antigen (HLA)-DQ2 and/or -DQ8 is an essential risk factor for celiac disease (CD). About 90–95% of patients with CD carry HLA-DQ2/-DQ8 alleles, and HLA-DQ typing is considered an additional diagnostic test. Conventional polymerase chain reaction (PCR)-based HLA-DQ typing methods are expensive, complex, and a time-consuming process. We assessed the efficacy of a novel HLA-DQ typing method, “Celiac Gene Screen,” for the detection of CD-associated HLA haplotypes. Methods: To assess the diagnostic performance of the Celiac Gene Screen test, 100 ethylenediaminetetraacetic acid (EDTA) blood samples, already characterized by the conventional HLA-DQ typing method, that is, PCR sequence-specific oligonucleotide probes (PCR-SSOP), a concordance between both the methods were explored. For validity, a further 300 EDTA blood samples with unknown HLA-DQ status were genotyped using the Celiac Gene Screen test, including 141 samples from CD, 56 first-degree relatives (FDRs) of CD and 103 samples from controls. Results: Of the 100 samples with known status of HLA-DQ alleles, 79 samples were HLA-DQ2 and/or -DQ8 positive, and 21 samples were HLA-DQ2 and/or -DQ8 negative by conventional PCR. These 100 samples were re-typed using the Celiac Gene screen kit; all 79 positives were typed positive, and 21 negatives were typed negative for HLA-DQ alleles. Among 300 samples with unknown HLA-DQ status, 118 of 141 (84%) patients with CD, 48 of 56 (86%) FDRs of CD, and 52 of 103 (50%) controls typed positive for HLA-DQ alleles. Conclusions: The Celiac Gene Screen HLA-DQ typing method showed excellent concordance with the conventional HLA-DQ typing method and could be a cost-reducing and effective method for CD-associated HLA screening.

Validation of a novel single-drop rapid human leukocyte antigen-DQ2/-DQ8 typing method to identify subjects susceptible to celiac disease / Verma, A. K.; Singh, A.; Gatti, S.; Lionetti, E.; Galeazzi, T.; Monachesi, C.; Franceschini, E.; Ahuja, V.; Catassi, C.; Makharia, G. K.. - In: JGH OPEN. - ISSN 2397-9070. - 2:6(2018), pp. 311-316. [10.1002/jgh3.12090]

Validation of a novel single-drop rapid human leukocyte antigen-DQ2/-DQ8 typing method to identify subjects susceptible to celiac disease

Verma A. K.;Gatti S.;Lionetti E.;Galeazzi T.;Monachesi C.;Franceschini E.;Catassi C.;
2018-01-01

Abstract

Background and Aim: Human leukocyte antigen (HLA)-DQ2 and/or -DQ8 is an essential risk factor for celiac disease (CD). About 90–95% of patients with CD carry HLA-DQ2/-DQ8 alleles, and HLA-DQ typing is considered an additional diagnostic test. Conventional polymerase chain reaction (PCR)-based HLA-DQ typing methods are expensive, complex, and a time-consuming process. We assessed the efficacy of a novel HLA-DQ typing method, “Celiac Gene Screen,” for the detection of CD-associated HLA haplotypes. Methods: To assess the diagnostic performance of the Celiac Gene Screen test, 100 ethylenediaminetetraacetic acid (EDTA) blood samples, already characterized by the conventional HLA-DQ typing method, that is, PCR sequence-specific oligonucleotide probes (PCR-SSOP), a concordance between both the methods were explored. For validity, a further 300 EDTA blood samples with unknown HLA-DQ status were genotyped using the Celiac Gene Screen test, including 141 samples from CD, 56 first-degree relatives (FDRs) of CD and 103 samples from controls. Results: Of the 100 samples with known status of HLA-DQ alleles, 79 samples were HLA-DQ2 and/or -DQ8 positive, and 21 samples were HLA-DQ2 and/or -DQ8 negative by conventional PCR. These 100 samples were re-typed using the Celiac Gene screen kit; all 79 positives were typed positive, and 21 negatives were typed negative for HLA-DQ alleles. Among 300 samples with unknown HLA-DQ status, 118 of 141 (84%) patients with CD, 48 of 56 (86%) FDRs of CD, and 52 of 103 (50%) controls typed positive for HLA-DQ alleles. Conclusions: The Celiac Gene Screen HLA-DQ typing method showed excellent concordance with the conventional HLA-DQ typing method and could be a cost-reducing and effective method for CD-associated HLA screening.
2018
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11566/294919
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