CTLA-4 Gene Polymorphism in Pediatric Type 1 Diabetes Mellitus: A Case-Control Study

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Thammineni Aniketh1, Raghavendra Gobbur1, Gurushantappa S Kadakol2

  • 1Department of Pediatrics, Shri B. M. Patil Medical College and Hospital and Research Center, BLDE (Deemed to be University), Vijayapura, Karnataka, India.

Annals of African Medicine
|July 23, 2026
PubMed

Insights

The CTLA-4 G/G genotype is linked to childhood type 1 diabetes mellitus (T1DM) and affects disease onset age. This finding highlights a genetic marker for T1DM in pediatric populations.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Type 1 diabetes mellitus (T1DM) is an autoimmune disease with complex genetic and environmental factors.
  • Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) plays a crucial role in immune regulation.
  • Polymorphisms in the CTLA-4 gene are investigated for their potential association with autoimmune diseases.

Purpose of the Study:

  • To investigate the association between the CTLA-4 (+49A/G) gene polymorphism and the risk of developing type 1 diabetes mellitus in children.
  • To determine if this polymorphism influences the age of onset for pediatric T1DM.

Main Methods:

  • An observational case-control study involving 44 children (22 with T1DM, 22 controls) aged 1-16 years.
  • CTLA-4 (+49A/G) gene polymorphism analyzed using polymerase chain reaction-restriction fragment length polymorphism and Sanger sequencing.
  • Clinical, anthropometric, and biochemical data collected for all participants.

Main Results:

  • The G/G genotype of CTLA-4 (+49A/G) was significantly more frequent in children with T1DM compared to controls (54.55% vs. 22.73%, P=0.030).
  • The G allele frequency was higher in cases (0.66) than controls (0.32).
  • The G/G genotype was associated with an earlier age of onset in pediatric T1DM cases.

Conclusions:

  • The G/G genotype of the CTLA-4 +49A/G polymorphism is significantly associated with type 1 diabetes mellitus in children.
  • This specific genotype may influence the age at which T1DM manifests in pediatric patients.
Abstract

Keywords:
+49A/G polymorphismPolymorphisme +49A/GSanger sequencingdiabète sucré de type 1familial riskgenetic susceptibilitypediatricpédiatriquerisque familialsusceptibilité génétiqueséquençage de Sangertype 1 diabetes mellitus

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