BMC gastroenterology · 2026
HLA-DQB1*02, HLA-DRB1*03 alleles and HLA-DQB1*02-HLA-DRB1*03 haplotype confer a significant risk of celiac disease in the Mauritanian population.
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Ebebecar Saleck Mahfoudh, Salame Malak, MohamedHameyin, Hamed Tijani, Vetten Fatimetou, Soumbara Tetou, Hmeity Mohamed Lemine, Mohmed Abdallahi Sidi, Abdelghaffar Houria, Houmeida Ahmed
Аннотация
BACKGROUND AND AIM: Celiac disease (CD) is an autoimmune disorder primarily caused by an abnormal immune response to dietary gluten in human leucocytes class II antigens carriers. This preliminary study aimed to assess the specific risk conferred by DQB1 and DRB1 alleles to celiac disease development in the Mauritanian population.
MATERIALS AND METHODS: Frequencies of HLA-DQB1and HLA-DRB1alleles and haplotypes were evaluated in 50 celiac disease (CD) patients. The association of HLA-DQB1 and HLA-DRB1with the disease was tested using a control group of 50 non-CD healthy individuals. Genotyping was performed by PCR-SSP and next-generation sequencing (NGS).
RESULTS: Genotyping of the studied population revealed that the most frequent alleles of DQB1/DRB1gens among CD patients were DQB1*02(70%) and DQB1*03(9%), DRB1*03 (52%) was the largest group followed by DRB1*07 (12%). The major allelic combination was DRB1*03-DQB1*02, with a frequency of 47%. Analysis of allele frequency in patients and controls revealed a significant association between CD and the two key HLA alleles here respectively DQB1*02(χ2 = 44.46; p = 2.59 × 10⁻11) and DRB1*03 (χ2 = 8.32; p = 3.9 × 10⁻3). Significant association was also found with DQB1*02-DRB1*03 (χ2 = 31.47; p = 2.0 × 10⁻⁸). However, no considerable risk of the disease was conferred by any of the other haplotypes tested here.
CONCLUSION: These preliminary results, consistent with previous literature on CD genetic susceptibility, support the predominant role of DQB1*02 and DRB1*03 alleles and haplotypes in celiac onset in our population. The availability of NGS typing for celiac disease maybe an additive tool to exclude symptoms ambiguity during CD diagnosis in our medical facilities.
MATERIALS AND METHODS: Frequencies of HLA-DQB1and HLA-DRB1alleles and haplotypes were evaluated in 50 celiac disease (CD) patients. The association of HLA-DQB1 and HLA-DRB1with the disease was tested using a control group of 50 non-CD healthy individuals. Genotyping was performed by PCR-SSP and next-generation sequencing (NGS).
RESULTS: Genotyping of the studied population revealed that the most frequent alleles of DQB1/DRB1gens among CD patients were DQB1*02(70%) and DQB1*03(9%), DRB1*03 (52%) was the largest group followed by DRB1*07 (12%). The major allelic combination was DRB1*03-DQB1*02, with a frequency of 47%. Analysis of allele frequency in patients and controls revealed a significant association between CD and the two key HLA alleles here respectively DQB1*02(χ2 = 44.46; p = 2.59 × 10⁻11) and DRB1*03 (χ2 = 8.32; p = 3.9 × 10⁻3). Significant association was also found with DQB1*02-DRB1*03 (χ2 = 31.47; p = 2.0 × 10⁻⁸). However, no considerable risk of the disease was conferred by any of the other haplotypes tested here.
CONCLUSION: These preliminary results, consistent with previous literature on CD genetic susceptibility, support the predominant role of DQB1*02 and DRB1*03 alleles and haplotypes in celiac onset in our population. The availability of NGS typing for celiac disease maybe an additive tool to exclude symptoms ambiguity during CD diagnosis in our medical facilities.