Frequency of HLA-DQA1*0501 and DQB1*0201 alleles in patients with coeliac disease, their first-degree relatives and controls in Jordan.

Z J El-Akawi, D M Al-Hattab, M A Migdady
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引用次数: 18

Abstract

Background: The primary genetic marker associated with coeliac disease (CD) is the HLA-DQ2 molecule, encoded by the DQA1*0501 and DQB1*0201 genes.

Aim: To investigate the frequency of HLA-DQA1*0501 and DQB1*0201 alleles in Jordanian patients with CD and their first-degree relatives.

Methods: An allele-specific DNA-based PCR-sequence-specific primer was used to investigate DQA1*0501 and DQB1*0201 alleles in 44 CD patients, 47 first-degree relatives and 53 healthy controls.

Results: The mean age of the patients at the time of diagnosis was 13.5 years (range 1-39) and at the time of the study was 19.3 years (range 5-42). The DQA1/B1 (0501; 0201) haplotype was present in 80% of patients and 66% of first-degree relatives compared with 32% of controls (p<0.0001 and <0.01, respectively). The remaining 20% of CD patients who were negative for the DQ2 molecule carried the DQB1*0201 allele only. A statistically significant difference was detected in the DQ2 hetero-dimer frequency between CD patients, their first-degree relatives and controls with a higher frequency in the patients group (p<0.001).

Conclusion: The significant differences in the frequency of DQA1*0501, DQB1*0201 alleles in CD patients and their first-degree relatives compared with the control group demonstrated the important role of these alleles in the development of CD in the Jordanian population.

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约旦乳糜泻患者及其一级亲属及对照HLA-DQA1*0501和DQB1*0201等位基因频率
背景:与乳糜泻(CD)相关的主要遗传标记是HLA-DQ2分子,由DQA1*0501和DQB1*0201基因编码。目的:了解约旦乳糜泻患者及其一级亲属中HLA-DQA1*0501和DQB1*0201等位基因的频率。方法:采用等位基因特异性dna pcr序列特异性引物对44例CD患者、47例一级亲属和53例健康对照的DQA1*0501和DQB1*0201等位基因进行检测。结果:患者诊断时的平均年龄为13.5岁(范围1-39岁),研究时的平均年龄为19.3岁(范围5-42岁)。DQA1/B1 (0501;结论:CD患者及其一级亲属中DQA1*0501、DQB1*0201等位基因的频率与对照组相比存在显著差异,说明这些等位基因在约旦人群CD发病中的重要作用。
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Annals of Tropical Paediatrics
Annals of Tropical Paediatrics 医学-热带医学
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Annals of Tropical Paediatrics will become Paediatrics and International Child Health from 2012 Deafness: malaria as a forgotten cause. Perinatal tuberculosis. Clinical manifestations and outcome in HIV-infected young infants presenting with acute illness in Durban, South Africa. Perinatal tuberculosis: four cases and use of broncho-alveolar lavage.
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