PMID- 29458095
OWN - NLM
STAT- MEDLINE
DCOM- 20190916
LR  - 20190916
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Linking)
VI  - 20
IP  - 3
DP  - 2018 May
TI  - Rapid, Loop-Mediated Isothermal Amplification Detection of Celiac Disease Risk 
      Alleles.
PG  - 307-315
LID - S1525-1578(17)30544-5 [pii]
LID - 10.1016/j.jmoldx.2018.01.005 [doi]
AB  - Human leukocyte antigen (HLA) genotyping has become a useful investigation in the 
      diagnostic work-up of celiac disease (CD), with utility in risk stratification 
      and screening. However, broad application of this technology has been hindered by 
      the cost and time burden of conventional laboratory-based assays. We have 
      developed and validated CD-loop-mediated isothermal amplification (CD-LAMP), a 
      LAMP assay, which enables rapid identification of the signature CD risk 
      genotypes, HLA-DQ2.5, HLA-DQ8, HLA-DQ2.2, and HLA-DQA1*05. Sample-to-answer is 
      achieved in approximately 65 minutes without DNA purification, thermal cycling, 
      or specialized analytical equipment. CD-LAMP genotyping of samples was 100% 
      concordant with accredited pathology genotyping on a panel of 40 blood and 20 
      saliva samples. In a panel of 100 purified DNA samples, genotyping of the 
      high-risk DQ2.5 genotype was 100% concordant with accredited pathology 
      genotyping, with slightly reduced sensitivity for the DQ8 genotype (97.1%) and 
      reduced specificity for the DQ8 (93.9%) and DQ2.2 (95.1%) genotypes. CD-LAMP 
      results are easily visualized and instrument free through the addition of a DNA 
      intercalating dye after amplification. Combined with point-of-care antibody 
      testing, CD-LAMP may enable immediate, confident CD diagnosis at a low cost in 
      the clinical setting.
CI  - Copyright (c) 2018 American Society for Investigative Pathology and the Association 
      for Molecular Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Erlichster, Michael
AU  - Erlichster M
AD  - Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, 
      Australia; Department of Medicine, University of Melbourne, Melbourne, Victoria, 
      Australia.
FAU - Tye-Din, Jason A
AU  - Tye-Din JA
AD  - Immunology Division, The Walter and Eliza Hall Institute of Medical Research, 
      Melbourne, Victoria, Australia; Department of Medical Biology, University of 
      Melbourne, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, 
      Melbourne, Victoria, Australia; Department of Gastroenterology, The Royal 
      Melbourne Hospital, Melbourne, Victoria, Australia.
FAU - Varney, Michael D
AU  - Varney MD
AD  - Victorian Transplantation and Immunogenetics Service, Australian Red Cross Blood 
      Service, Melbourne, Victoria, Australia.
FAU - Skafidas, Efstratios
AU  - Skafidas E
AD  - Centre for Neural Engineering, University of Melbourne, Melbourne, Victoria, 
      Australia; Department of Electrical and Electronic Engineering, University of 
      Melbourne, Melbourne, Victoria, Australia; The Florey Institute of Neuroscience 
      and Mental Health, Melbourne, Victoria, Australia.
FAU - Kwan, Patrick
AU  - Kwan P
AD  - Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia; 
      Department of Electrical and Electronic Engineering, University of Melbourne, 
      Melbourne, Victoria, Australia; Department of Neurology, The Royal Melbourne 
      Hospital, Melbourne, Victoria, Australia. Electronic address: 
      patrick.kwan@unimelb.edu.au.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180217
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - *Alleles
MH  - Base Sequence
MH  - Celiac Disease/*genetics
MH  - DNA/genetics
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - Reproducibility of Results
MH  - Risk Factors
MH  - Sensitivity and Specificity
EDAT- 2018/02/20 06:00
MHDA- 2019/09/17 06:00
CRDT- 2018/02/20 06:00
PHST- 2017/11/12 00:00 [received]
PHST- 2017/12/20 00:00 [revised]
PHST- 2018/01/19 00:00 [accepted]
PHST- 2018/02/20 06:00 [pubmed]
PHST- 2019/09/17 06:00 [medline]
PHST- 2018/02/20 06:00 [entrez]
AID - S1525-1578(17)30544-5 [pii]
AID - 10.1016/j.jmoldx.2018.01.005 [doi]
PST - ppublish
SO  - J Mol Diagn. 2018 May;20(3):307-315. doi: 10.1016/j.jmoldx.2018.01.005. Epub 2018 
      Feb 17.