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

Abstract
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.
AuthorsSerena Vatta, Annalisa Fabris, Ludovica Segat, Tarcisio Not, Sergio Crovella
JournalHuman immunology (Hum Immunol) Vol. 72 Issue 6 Pg. 499-502 (Jun 2011) ISSN: 1879-1166 [Electronic] United States
PMID21513759 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
Topics
  • Adolescent
  • Adult
  • Aged
  • Celiac Disease (diagnosis, genetics, immunology)
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Italy
  • Male
  • Mass Screening
  • Middle Aged
  • Polymerase Chain Reaction (methods)
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Reverse Transcriptase Polymerase Chain Reaction (methods)
  • Sensitivity and Specificity

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