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HLA - DQ genotyping in celiac disease in western India
Insights
Celiac disease in Indian patients is strongly linked to human leukocyte antigen (HLA) DQ 2 and DQ 8 genotypes. This association is significant for diagnosing celiac disease when combined with serological tests.
Area of Science:
- Immunogenetics
- Gastroenterology
- Human Genetics
Background:
- Celiac disease diagnosis in India lacks extensive human leukocyte antigen (HLA) studies.
- Understanding HLA DQ antigen profiles is crucial for celiac disease research in diverse populations.
Purpose of the Study:
- To investigate the prevalence and significance of HLA DQ antigens in Indian celiac disease patients.
- To establish the association between specific HLA DQ alleles and celiac disease in the Indian subcontinent.
Main Methods:
- A cross-sectional study involving 34 diagnosed celiac disease patients and 25 controls.
- HLA-DQ typing performed using the Histo Spot SSO HLA DQ celiac disease kit.
Main Results:
- 94% of celiac patients were positive for HLA-DQ2 or HLA-DQ8, significantly higher than controls (12%).
- HLA-DQ2 and HLA-DQ8 genotypes were predominantly associated with celiac disease in this Indian cohort.
- Common haplotypes included HLA-DQ 2.5 and HLA-DQ 2, followed by DQ X.5, DQ8, and DQ 2.2.
Conclusions:
- Celiac disease in Indian patients shows a strong association with HLA DQ 2 and DQ 8 genotypes.
- HLA DQ typing, combined with serology, offers high diagnostic predictive value in symptomatic Indian celiac disease patients.
Background And Aims:
Very few human leukocyte antigen (HLA) studies have been carried out in celiac disease patients in India. The aim was to study the HLA DQ antigens in diagnosed celiac disease patients.
Methods:
The cross sectional study analysed non-consecutive 34 celiac patients diagnosed as per modified ESPGHAN criteria at tertiary centre and compared with 25 controls. The HLA-DQ typing was carried out using Histo Spot SSO HLA DQ celiac disease kit by tissue typing department.
Results:
Out of 34 celiac disease patients (26 females, age ± SD 38.79 ± 15.84 years), 59% presented with typical diarrheal disease. Anemia (76%) was most common extra intestinal manifestation followed by bone pain (53%), neurological (12%) and infertility (3%). All 34 patients were IgA antiendomysial antibody positive out of which 32 patients (94%) were HLA-DQ positive (31 patients were HLA-DQ 2 and 1 was HLA-DQ 8 positive).Among HLA positive patients 13, 9 and 10 patients had modified Marsh stage 1, 2 and 3 respectively. HLA DQ 2 and DQ8 positivity among celiac patients (94%) was statistically significant as compared to controls (12%) (P< 0.0001). HLA DQ 2.5 (DQA1*0501 :DQB1*0201 haplotype) and DQ 2 (DQB1*02) haplotypes were common accounting for 70% of patients followed by DQ X.5, DQ8 and DQ 2.2.
Conclusion:
Celiac disease in Indian patients is predominantly associated with HLA DQ 2 and DQ 8 genotype and has high positive predictive value for diagnosis when combined with serology in symptomatic patients.
