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.

Indian Pediatrics
|March 17, 2026
PubMed

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.
Abstract

Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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:
28.0K
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
57
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
65
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy01:30

Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy

Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
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...
1.0K
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
4.5K
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
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...
19.1K