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Human Leukocyte Antigen-DQ Genotyping in Pediatric Celiac Disease
Stuti Pareek1, Raj Kumar Gupta1, Abhinav Sharma1
1Department of Pediatric Medicine, Sawai Man Singh Medical College, Jaipur, India.
Insights
Human Leukocyte Antigen (HLA)-DQ2/DQ8 genotypes are highly prevalent in children with celiac disease (CD) in Northern India. Specific HLA DQ combinations correlate with varied clinical presentations and disease severity in pediatric CD patients.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Celiac disease (CD) is an autoimmune disorder triggered by gluten ingestion.
- Human Leukocyte Antigen (HLA) genes play a crucial role in immune responses and are strongly associated with CD susceptibility.
- Understanding the specific HLA DQ genotype patterns in pediatric populations is essential for diagnosis and understanding disease pathogenesis.
Purpose of the Study:
- To determine the prevalence of HLA-DQ genotypes in children with biopsy-proven celiac disease.
- To compare HLA-DQ genotype frequencies between pediatric CD patients and a control group in Northern India.
- To investigate the correlation between specific HLA-DQ genotypes and the clinical profiles of pediatric celiac disease.
Main Methods:
- A cross-sectional comparative observational study was conducted.
- 52 pediatric patients diagnosed with celiac disease and 26 healthy controls were included.
- HLA DQ genotyping was performed, and results were correlated with clinical data.
Main Results:
- HLA DQ2/DQ8 genotypes were found in 100% of pediatric CD cases versus 23.1% of controls in Northern India.
- Combinations like HLA DQ2.5/DQ8 and HLA DQ2.5/DQ2.2 were associated with more atypical presentations and severe biopsy findings.
- HLA DQ8 was linked to a later age of diagnosis and shorter stature, while HLA DQ2.2 was associated with less severe biopsy findings.
Conclusions:
- HLA DQ2/DQ8 genotypes are strongly associated with pediatric celiac disease in Northern India.
- Specific HLA DQ genotypes and their combinations may predict distinct clinical manifestations and disease severity in children with CD.
- HLA DQ genotyping could aid in assessing CD risk and understanding disease heterogeneity in pediatric populations.
Purpose:
The purpose of this study was to determine the pattern of human leukocyte antigen (HLA)-DQ genotype in children diagnosed with celiac disease (CD) (biopsy proven), and to compare this with a control group; and secondarily, to correlate HLA genotypes with clinical profiles of CD.
Methods:
This cross-sectional comparative observational study included 26 controls and 52 patients diagnosed with CD who presented at Sir Padampat Mother and Child Health Institute, Jaipur, from May, 2017 to October, 2018. HLA DQ genotype was assessed for each patients and correlated with clinical profiles.
Results:
HLA DQ2/DQ8 genotypes were significantly more common in CD (present in 100.0% cases) than in controls (23.1%) in Northern India (Rajasthan). When HLA DQ2.5 and DQ8 were present together, individuals had significantly more atypical presentations and severe findings on duodenal biopsy. Similarly, patients with the HLA DQ 2.5 genotype were also predisposed to more severe endoscopic findings, while HLA DQ2.2 predisposed them to less severe biopsy findings. HLA DQ8 was significantly associated with later age at diagnosis (>5 years) and shorter stature. The highest HLA DQ relative risk (RR) for CD development was associated with HLA DQ2.5 and DQ2.2 in combination, followed by HLA DQ2.5 and DQ8 in combination, while HLA DQx.5 and HLA DQ2.2 together had the lowest risk.
Conclusion:
HLA DQ2/DQ8 genotypes are strongly associated with pediatric CD patients in northern India. These genotypes and their combinations may be associated with different clinical presentations of CD, and may help predict severity of CD.
