PMID- 30619943
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220331
IS  - 2397-9070 (Electronic)
IS  - 2397-9070 (Linking)
VI  - 2
IP  - 6
DP  - 2018 Dec
TI  - Validation of a novel single-drop rapid human leukocyte antigen-DQ2/-DQ8 typing 
      method to identify subjects susceptible to celiac disease.
PG  - 311-316
LID - 10.1002/jgh3.12090 [doi]
AB  - 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.
FAU - Verma, Anil K
AU  - Verma AK
AD  - Celiac Disease Research Laboratory, Department of Pediatrics Universita 
      Politecnica delle Marche Ancona Italy.
FAU - Singh, Alka
AU  - Singh A
AD  - Department of Gastroenterology and Human Nutrition All India Institute of Medical 
      Sciences New Delhi India.
FAU - Gatti, Simona
AU  - Gatti S
AD  - Department of Pediatrics Universita Politecnica delle Marche Ancona Italy.
FAU - Lionetti, Elena
AU  - Lionetti E
AD  - Department of Pediatrics Universita Politecnica delle Marche Ancona Italy.
FAU - Galeazzi, Tiziana
AU  - Galeazzi T
AD  - Celiac Disease Research Laboratory, Department of Pediatrics Universita 
      Politecnica delle Marche Ancona Italy.
FAU - Monachesi, Chiara
AU  - Monachesi C
AD  - Celiac Disease Research Laboratory, Department of Pediatrics Universita 
      Politecnica delle Marche Ancona Italy.
FAU - Franceschini, Elisa
AU  - Franceschini E
AD  - Department of Pediatrics Universita Politecnica delle Marche Ancona Italy.
FAU - Ahuja, Vineet
AU  - Ahuja V
AD  - Department of Gastroenterology and Human Nutrition All India Institute of Medical 
      Sciences New Delhi India.
FAU - Catassi, Carlo
AU  - Catassi C
AD  - Department of Pediatrics Universita Politecnica delle Marche Ancona Italy.
FAU - Makharia, Govind K
AU  - Makharia GK
AUID- ORCID: 0000-0002-2474-2194
AD  - Department of Gastroenterology and Human Nutrition All India Institute of Medical 
      Sciences New Delhi India.
LA  - eng
PT  - Journal Article
DEP - 20181101
PL  - Australia
TA  - JGH Open
JT  - JGH open : an open access journal of gastroenterology and hepatology
JID - 101730833
PMC - PMC6308057
OTO - NOTNLM
OT  - HLA
OT  - alleles
OT  - celiac disease
OT  - genotyping
OT  - polymerase chain reaction
OT  - susceptibility
EDAT- 2019/01/09 06:00
MHDA- 2019/01/09 06:01
PMCR- 2018/11/01
CRDT- 2019/01/09 06:00
PHST- 2018/06/12 00:00 [received]
PHST- 2018/08/03 00:00 [revised]
PHST- 2018/08/12 00:00 [accepted]
PHST- 2019/01/09 06:00 [entrez]
PHST- 2019/01/09 06:00 [pubmed]
PHST- 2019/01/09 06:01 [medline]
PHST- 2018/11/01 00:00 [pmc-release]
AID - JGH312090 [pii]
AID - 10.1002/jgh3.12090 [doi]
PST - epublish
SO  - JGH Open. 2018 Nov 1;2(6):311-316. doi: 10.1002/jgh3.12090. eCollection 2018 Dec.