Tag-single nucleotide polymorphism-based human leukocyte antigen genotyping in celiac disease patients from northeastern Italy

Serena Vatta, Annalisa Fabris, Ludovica Segat, Tarcisio Not, Sergio Crovella

Research output: Contribution to journalArticle


We genotyped celiac disease (CD)-associated haplotypes DQ2.5, DQ8, DQ2.2, and DQ7 in 1005 CD patients from North Eastern Italy using a Tag-single nucleotide polymorphism (SNPs) approach and real time PCR platform, checking the accuracy and reliability of the method and comparing it to traditional PCR-SSP. Only 14 of 2010 chromosomes analyzed (0.7%) showed discrepancies between the Tag-SNPs real-time polymerase chain reaction (PCR) method and the PCR-single-strand polymorphism (SSP) technique, indicating a high sensitivity and specificity (ranging from 0.987 to 1 and from 0.998 to 0.999, respectively) for tagging with respect to corresponding human leukocyte antigen (HLA) alleles identified by PCR-SSP. Moreover, the overall cost of the Tag-SNPs HLA typing method was low (3 to 4 €/sample instead of 35 to 70 €/sample with commercial kits), making it suitable for mass screenings. Hence, we believe that the Tag-SNPs HLA typing could be used to complement or replace classic HLA typing in at high-risk groups, for research purposes and eventually in population screening programs.

Original languageEnglish
Pages (from-to)499-502
Number of pages4
JournalHuman Immunology
Issue number6
Publication statusPublished - Jun 2011



  • Celiac disease
  • Genetic susceptibility
  • Genotyping
  • HLA
  • Real-time PCR
  • Tag-SNPs

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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