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HLA-DR alleles among Pakistani patients of coeliac disease
Nida Saleem1, Salman Ali2, Tahir Aziz Ahmed3
1Armed Forces Institute of Pathology (AFIP), Rawalpindi. nida.saleem@myspyre.pk
Insights
Certain human leukocyte antigen (HLA) DRB1 alleles may increase coeliac disease risk. This study found HLA-DRB1*03 is significantly associated with coeliac disease susceptibility in Pakistani children.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Coeliac disease (CD) is an immune-mediated disorder triggered by gluten.
- Genetic factors, particularly human leukocyte antigen (HLA) alleles, play a crucial role in CD susceptibility.
- The prevalence and genetic associations of CD in Pakistan require further investigation.
Purpose of the Study:
- To determine if specific HLA-DRB1 alleles contribute to genetic susceptibility in Pakistani coeliac disease patients.
- To investigate the association between HLA-DRB1 alleles and coeliac disease in a pediatric cohort from Pakistan.
Main Methods:
- A case-control study involving 25 pediatric coeliac disease patients and 150 healthy controls.
- Diagnosis of coeliac disease was based on established European Society of Paediatric Gastroenterology and Nutrition criteria, including duodenal biopsy, clinical response, and antibody presence.
- Human leukocyte antigen DRB1 (HLA-DRB1) typing was performed using sequence-specific primers, with results analyzed by agarose gel electrophoresis and Fisher Exact Test for statistical significance.
Main Results:
- The study genotyped 25 pediatric coeliac disease patients (11 female, 14 male).
- A statistically significant positive association was observed between coeliac disease and the HLA-DRB1*03 allele (92% in patients vs. 21% in controls, p < 0.01).
Conclusions:
- The HLA-DRB1*03 allele is associated with an increased risk of developing coeliac disease.
- This finding highlights the role of specific HLA-DRB1 alleles in the genetic predisposition to coeliac disease in the Pakistani population.
Objectives:
To investigate whether certain DR alleles might also contribute to the genetic susceptibility among Coeliac disease patients in Pakistan.
Methods:
The case-control study was conducted at the Military Hospital, Rawalpindi, from October 2011 to January 2012, and analysed 25 children diagnosed to have coeliac disease as per the criteria set by the European Society of Paediatric Gastroenterology and Nutrition, which included histopathological alterations in duodenal biopsies, clinical response to gluten withdrawal, and presence of anti-endomyseal antibodies. Patients were compared with a group of 150 healthy subjects. Dioxyribonucleic acid was extracted from peripheral blood collected in ethylenediaminetetraacetic acid.K3. Human leukocyte antigen DRB1 typing was carried out on allele level (DRB1*01--DRB1*16) using sequence specific primers. Human leukocyte antigen type was determined by agarose gel electrophoresis and results were recorded. Phenotype frequency of various alleles among the patient group and the control group was calculated by direct counting, and significance of their association was determined by Fisher Exact Test.
Results:
A total of 11 (44%) female paediatric coeliac patients in age range 1-9 (mean 7.2 +/- 4.8 years) and 14 (56%) male paediatric patients in the age range 6-14 (mean 8.6 +/- 5.1 years) were genotyped for HLA-DRB1 loci. A statistically significant positive association of the disease with HLA-DRB1*03 (n = 23; 92% versus n=31; 21% in controls, p < 0.01) was observed.
Conclusion:
HLA-DRB1*03 is associated with increased risk of developing coeliac disease.
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