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

Indian Heart J. 2021 Jul-Aug;73(4):511-515. doi: 10.1016/j.ihj.2021.05.002. Epub 2021 Jun 8.

Abstract

Aim: Genetic contribution in acute rheumatic fever (ARF)/rheumatic heart disease (RHD) has been suggested but not according to severity of the valve involvement. This study attempts to identify the relevance of CTLA-4 polymorphism with severity of the disease.

Methods: In a case-control design, 291 healthy controls and 83 patients were genotyped for association between RHD and single-nucleotide polymorphisms -1661A/G of CTLA-4.

Results: Segregation of patients on the basis of severity i.e., MVL (Mitral Valve Lesion) and CVL (Combined Valve Lesion) revealed that the frequency of CTLA-4 -1661G allele depleted as the disease progressed to CVL (p < 0.05). Patients in the age group of 31-45 years were significantly more susceptible (p < 0.046). Whereas, female patients were more susceptible than the male patients.

Conclusion: Our study suggests the risk associated with decreased frequency of CTLA-4 -1661G allele in the CVL group and in females.

Keywords: Acute rheumatic fever; CTLA-4; Polymorphism; Rheumatic heart disease; Valve lesions.

MeSH terms

  • Adult
  • CTLA-4 Antigen / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Rheumatic Fever*
  • Rheumatic Heart Disease* / diagnosis
  • Rheumatic Heart Disease* / genetics

Substances

  • CTLA-4 Antigen