HLA – DQ genotyping in celiac disease in western India
| Autor: | Sharada Kankonkar, Apurva Shah, Deepak Amarapurkar, Vaibhav Somani |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male medicine.medical_specialty Genotype Anemia India Human leukocyte antigen Gastroenterology Serology HLA-DQ Antigens Internal medicine HLA-DQ medicine Humans Genetic Predisposition to Disease Genotyping Retrospective Studies medicine.diagnostic_test business.industry Haplotype nutritional and metabolic diseases Retrospective cohort study General Medicine medicine.disease Celiac Disease Cross-Sectional Studies Immunology Female business Tissue typing |
| Zdroj: | Tropical Gastroenterology. 36:174-178 |
| ISSN: | 0250-636X |
| DOI: | 10.7869/tg.279 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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