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Background and aim <p>Celiac disease (CD) is an autoimmune disorder primarily caused by an abnormal immune response to dietary gluten in human leucocytes class II antigens carriers.</p> <p>This preliminary study aimed to assess the specific risk conferred by DQB1 and DRB1 alleles to celiac disease development in the Mauritanian population.</p> Materials and methods <p>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.</p> <p>Genotyping was performed by PCR-SSP and next-generation sequencing (NGS).</p> Results <p>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%).</p> <p>The major allelic combination was DRB1*03–DQB1*02, with a frequency of 47%.</p> <p>Analysis of allele frequency in patients and controls revealed a significant association between CD and the two key HLA alleles here respectively DQB1*02(χ<sup>2</sup> = 44.46; <i>p</i> = 2.59 × 10⁻<sup>11</sup>) and DRB1*03 (χ<sup>2</sup> = 8.32; <i>p</i> = 3.9 × 10⁻<sup>3</sup>). Significant association was also found with DQB1*02-DRB1*03 (χ<sup>2</sup> = 31.47; <i>p</i> = 2.0 × 10⁻⁸). However, no considerable risk of the disease was conferred by any of the other haplotypes tested here.</p> Conclusion <p>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.</p>

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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

  • 期刊论文

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  • 发表日期：

    2026年7月16日

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  • Saleck Mahfoudh Ebebecar,
  • Malak Salame,
  • MohamedHameyin,
  • Tijani Hamed,
  • Fatimetou Vetten,
  • Tetou Soumbara,
  • Mohamed lemine Hmeity,
  • Abdallahi Sidi Mohmed,
  • Houria Abdelghaffar,
  • Ahmed Houmeida

摘要

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.