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Ayesh BM, Zaqout EK, Yassin MM. HLA-DQ2 and -DQ8 haplotypes frequency and diagnostic utility in celiac disease patients of Gaza strip, Palestine. Auto Immun Highlights. 2017;8(1):11doi: 10.1007/s13317-017-0099-0.
Ayesh, B. M., Zaqout, E. K., & Yassin, M. M. (2017). HLA-DQ2 and -DQ8 haplotypes frequency and diagnostic utility in celiac disease patients of Gaza strip, Palestine. Auto- immunity highlights, 8(1), 11. https://doi.org/10.1007/s13317-017-0099-0
Ayesh, Basim M, et al. "HLA-DQ2 and -DQ8 haplotypes frequency and diagnostic utility in celiac disease patients of Gaza strip, Palestine." Auto- immunity highlights vol. 8,1 (2017): 11. doi: https://doi.org/10.1007/s13317-017-0099-0
Ayesh BM, Zaqout EK, Yassin MM. HLA-DQ2 and -DQ8 haplotypes frequency and diagnostic utility in celiac disease patients of Gaza strip, Palestine. Auto Immun Highlights. 2017 Nov 15;8(1):11. doi: 10.1007/s13317-017-0099-0. PMID: 29143181; PMCID: PMC5688040.
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Auto Immun Highlights. 2017 Nov 15;8(1):11. doi: 10.1007/s13317-017-0099-0.

HLA-DQ2 and -DQ8 haplotypes frequency and diagnostic utility in celiac disease patients of Gaza strip, Palestine.

Auto- immunity highlights

Basim M Ayesh, Eman Kh Zaqout, Maged M Yassin

Affiliations

  1. Department of Laboratory Medical Sciences, Alaqsa University, P.O. Box 4051, Gaza, Palestine. [email protected].
  2. Forensic Lab, Palestinian Ministry of Justice, Gaza, Palestine.
  3. Faculty of Medicine, The Islamic University of Gaza, Gaza, Palestine.

PMID: 29143181 PMCID: PMC5688040 DOI: 10.1007/s13317-017-0099-0

Abstract

PURPOSE: Celiac disease (CD) diagnosis can be established by serological and small bowel biopsy (SBB), while absence of HLA-DQ2 and -DQ8 haplotypes excludes the disease. The present study aims at evaluating the diagnosis of a representative sample of pediatric and adult CD patients of Gaza strip in light of DQ2 and DQ8 haplotypes expression.

METHODS: Unrelated CD patients (n = 101) and matched healthy controls (n = 97) were genotyped for DQA1*05, DQB1*02 and DQB1*03:02 alleles by allele-specific real-time PCR. The diagnosis was re-evaluated according to the patient laboratory tests and HLA-DQ genotype.

RESULTS: The diagnosis of 35 patients who have been managed for CD could not be confirmed. Twenty-five of them were diagnosed upon their clinical presentation only. The remaining were either negative for serological and SBB tests or negative for HLA-DQ haplotypes. The HLA-DQ alleles were negative in 4 SBB and one Anti-EMA positive patients. The frequency of DQ2 and DQ8 haplotypes among the remaining 65 confirmed cases was 70.8 and 15.4%, respectively, compared to 17.5 and 27.8% in the controls. The DQB1*02 allele was the most common in the cases (84.6%) followed by DQA1*05 allele (80%) and DQB1*03:02 allele (20%). The DQA1*05 allele was commonest in the control group (54.6%) followed by DQB1*02 allele (42.3%) and DQB1*03:02 allele (28.9%).

CONCLUSIONS: Absence of HLA-DQ2 and HLA-DQ8 genotyping in the workup of patients may result in CD misdiagnosis, particularly in a setting with poor histopathological diagnostic capacity.

Keywords: Celiac disease; Gaza strip; HLA-DQ2; HLA-DQ8

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