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Susceptibility of CTLA-4 -1661A/G polymorphism towards severity of rheumatic heart disease

Ankit Bansal1, Sana Tasnim2, Mohit D Gupta1

  • 1GB Pant Institute of Post Graduate Medical Education and Research, New Delhi, India.

Indian Heart Journal
|September 3, 2021
PubMed

Insights

The CTLA-4 -1661G allele may reduce the risk of severe rheumatic heart disease (RHD). Lower allele frequency was observed in combined valve lesions, older adults, and females, suggesting a genetic link to RHD severity.

Area of Science:

  • Immunogenetics
  • Cardiovascular Genetics
  • Rheumatology

Background:

  • Genetic factors are implicated in acute rheumatic fever (ARF) and rheumatic heart disease (RHD).
  • The association between CTLA-4 polymorphism and RHD severity remains unclear.
  • Understanding genetic predispositions can aid in predicting disease progression.

Purpose of the Study:

  • To investigate the association between CTLA-4 gene polymorphism (-1661A/G) and the severity of RHD.
  • To identify genetic markers that correlate with valve involvement in RHD patients.

Main Methods:

  • A case-control study involving 83 RHD patients and 291 healthy controls.
  • Genotyping was performed for the CTLA-4 -1661A/G single-nucleotide polymorphism.
  • Patients were categorized based on valve lesion severity: Mitral Valve Lesion (MVL) and Combined Valve Lesion (CVL).

Main Results:

  • The frequency of the CTLA-4 -1661G allele was significantly lower in patients with Combined Valve Lesion (CVL) compared to less severe forms (p < 0.05).
  • Increased susceptibility to RHD was observed in the 31-45 year age group (p < 0.046).
  • Female patients demonstrated higher susceptibility to RHD than male patients.

Conclusions:

  • A decreased frequency of the CTLA-4 -1661G allele is associated with increased risk of severe RHD (CVL).
  • Genetic variations in CTLA-4 may influence RHD pathogenesis and severity.
  • Female sex and specific age groups are identified as risk factors for RHD.
Abstract

Keywords:
Acute rheumatic feverCTLA-4PolymorphismRheumatic heart diseaseValve lesions

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