Introduction Celiac disease is a chronic intestinal inflammation resulting in different degree of intestinal mucosal damages. The disease occurs in genetically predisposed individuals and associated with human leukocyte antigen (HLA)-DQ2/8 heterodimers. The aim of this study is to evaluate the correlation between distribution of HLA haplotypes and the severity of mucosal damages.
Methods Fifty nineIranian celiac disease patients were evaluated to predict the HLA-DQA1 and -DQB1 genes, using tagging SNPs method. All patients had positive tTGA and/or EMA antibodies and histology according to Modified Marsh classification (Marsh I-IIIc) by Rostami et al
Results The result of this study show that 86.4% of cases were carriers of HLA-DQ2 and/or HLA-DQ8 heterodimers, either homozygous or heterozygous. Marsh IIIa lesions were seen in 20 cases, Marsh IIIb in 9 and Marsh IIIc in 12 cases. Marsh IIIa is associated with HLA-DQ2 haplotype in 10 cases, IIIb with 4 and IIIc with 10 cases respectively. Marsh IIIa is correlated with HLA-DQ2.5/2.5 in 4 cases followed by HLA-DQ2.5/DQ8 and HLA-DQ2.5/DQX each in 3 cases respectively.
Conclusion According to high prevalence of HLA-DQ2 haplotype in Iranian population, we can conclude that there is a strong link between severity of mucosal damages and presence of HLA-DQ 2 haplotype. Celiac disease cases with Marsh III (a-c) carry more HLA risk alleles compared to those with Marsh I-II and this difference were statistically significant for DQ2.5 haplotype distribution (P = 0.0001).
Disclosure of Interest None Declared
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