PMID- 33725967
OWN - NLM
STAT- MEDLINE
DCOM- 20210326
LR  - 20230103
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 100
IP  - 11
DP  - 2021 Mar 19
TI  - Human leukocyte antigen (HLA)-DQ2 and -DQ8 haplotypes in celiac, celiac with type 
      1 diabetic, and celiac suspected pediatric cases.
PG  - e24954
LID - 10.1097/MD.0000000000024954 [doi]
LID - e24954
AB  - Celiac disease (CD) is an autoimmune enteropathy triggered by ingestion of gluten 
      present in wheat, barley, and rye. Gluten along with environmental trigger starts 
      an inflammatory reaction which results in damage to small intestine. Human 
      leukocyte antigen (HLA)-DQA1 *05, -DQB1 *02, and -DQB1 *03:02 are the known risk 
      alleles of CD. The diagnostic method for CD involves serological or intestinal 
      biopsy, but genetic test could be implemented. HLA typing precludes the need for 
      further diagnosis and it has high negative predictive value. The aim of this 
      study was to make aware of HLA molecular typing for celiac disease among local 
      laboratories and healthcare professionals. The prevalence and frequency 
      distribution of HLA-DQ2 and -DQ8 haplotypes in 175 pediatric unrelated healthy 
      controls, celiac patients, and CD with concurrent diabetes mellitus type 1 (DM1) 
      was evaluated. The most common haplotype was DQ2 followed by DQ8. In control 
      group only DQ2 was observed with frequency of 8.5%. In celiac patients 85.7% were 
      DQ2, 11.4% were DQ8, and rest were DQ2/DQ8 (2.8%), and all had CD. In the group 
      of CD with DM1, 31.4% had DQ2, 25% had DQ8, and 34% having both the haplotypes; 
      while only 9 of these patients were suffering from CD. It was concluded that 
      Celiac disease is frequently unrecognized by physicians, in part because of its 
      variable clinical presentation and symptoms. Thus genetic testing for celiac 
      disease could be an additive tool for diagnosis to exclude ambiguity.
CI  - Copyright (c) 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Siddiqui, Komal
AU  - Siddiqui K
AD  - Institute of Biotechnology and Genetic Engineering, University of Sindh.
FAU - Uqaili, Arsalan Ahmed
AU  - Uqaili AA
AD  - Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
FAU - Rafiq, Muhammad
AU  - Rafiq M
AD  - Institute of Biotechnology and Genetic Engineering, University of Sindh.
FAU - Bhutto, Muhammad Aqeel
AU  - Bhutto MA
AD  - Institute of Biotechnology and Genetic Engineering, University of Sindh.
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ2 antigen)
RN  - 0 (HLA-DQ8 antigen)
SB  - IM
MH  - Celiac Disease/*diagnosis/genetics
MH  - Child
MH  - Cross-Sectional Studies
MH  - Diabetes Mellitus, Type 1/*diagnosis/genetics
MH  - Female
MH  - Genetic Testing/*statistics & numerical data
MH  - HLA-DQ Antigens/*blood
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Predictive Value of Tests
PMC - PMC7982179
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2021/03/18 06:00
MHDA- 2021/03/27 06:00
PMCR- 2021/03/19
CRDT- 2021/03/17 01:10
PHST- 2020/09/23 00:00 [received]
PHST- 2021/02/04 00:00 [accepted]
PHST- 2021/03/17 01:10 [entrez]
PHST- 2021/03/18 06:00 [pubmed]
PHST- 2021/03/27 06:00 [medline]
PHST- 2021/03/19 00:00 [pmc-release]
AID - 00005792-202103190-00048 [pii]
AID - MD-D-20-09070 [pii]
AID - 10.1097/MD.0000000000024954 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2021 Mar 19;100(11):e24954. doi: 
      10.1097/MD.0000000000024954.