Related Experiment Video
Updated: Mar 19, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Celiac Disease and HLADQ2/DQ8 Genotypes in Severe Acute Malnutrition: A Hospital-Based Study
Swetketu Singh1, Ankur Singh2, Vinod Kumar3
1Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Insights
A significant number of children with severe acute malnutrition (SAM) have undiagnosed celiac disease (CD). The HLA-DQ2.5 genotype is most commonly associated with CD in this population.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Nutritional Science
Background:
- Severe acute malnutrition (SAM) is a critical health issue in children.
- Celiac disease (CD) is an autoimmune disorder triggered by gluten.
- Genetic predisposition, particularly HLA-DQ2/DQ8, plays a role in CD development.
Purpose of the Study:
- To determine the prevalence of celiac disease (CD) in children with severe acute malnutrition (SAM).
- To investigate the distribution and association of HLA-DQ2/DQ8 genotypes in SAM children with and without CD.
Main Methods:
- 140 children aged 6-59 months with SAM were enrolled.
- Exclusion criteria included secondary causes of SAM.
- Tests included tTG IgA serology, duodenal biopsy, and HLA-DQ2/DQ8 genotyping.
Main Results:
- 28.57% (40/140) of SAM children had confirmed CD.
- HLA-DQ2/DQ8 positivity was significantly higher in CD-positive children (95%) compared to CD-negative children (57%).
- HLA-DQ2.5 was the most frequent genotype (67.5% in CD-positive SAM children).
Conclusions:
- A substantial proportion of children with SAM have undiagnosed celiac disease.
- The HLA-DQ2.5 genotype is strongly associated with CD in this vulnerable population.
Objectives:
To determine the proportion of celiac disease (CD) among children with severe acute malnutrition (SAM) and to evaluate the distribution and association of HLA-DQ2/DQ8 genotypes in affected children.
Methods:
Children aged 6-59 months diagnosed with SAM were assessed for inclusion. Those with secondary causes of SAM like underlying chronic illnesses like congenital heart disease, renal disease, or immunodeficiency were excluded. All participants were tested for tissue transglutaminase (tTG) immunoglobulin A serology, endoscopic biopsy of duodenum and HLA DQ2/DQ8 genotyping. tTG IgA serology positive and histopathology compatible (Modified Marsh grade ≥ II) cases were grouped as group A (SAM with CD). Rest of the cases were grouped as group B (SAM without CD).
Results:
Out of 140 children with SAM, 20 with secondary causes of malnutrition were excluded. 40 out of 140 participants (28.57%) were tTG IgA positive with duodenal biopsy confirmatory of CD (group A). HLA-DQ2/DQ8 positivity was observed in 95% in group A and 57% of group B (P < 0.001). The most frequent genotype was HLA-DQ2.5 (67.5% in group A, 35% in group B; OR = 3.86, 95% CI 1.72-8.63).
Conclusion:
A substantial proportion of children with SAM have undiagnosed CD with HLA-DQ2.5 genotype being the most common genotype.
Related Concept Videos
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

