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"HLA-G 3'UTR gene polymorphisms and rheumatic heart disease: a familial study among South Indian population"

Maheshkumar Poomarimuthu1, Sivakumar Elango2, Sambath Soundrapandian2

  • 1Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, 625 021, Tamil Nadu, India.

Pediatric Rheumatology Online Journal
|February 2, 2017
PubMed

Insights

The +3142 C/C genotype of Human Leukocyte Antigen-G (HLA-G) may increase the risk of developing Rheumatic Heart Disease (RHD). This genotype appears to influence the severity of valvular lesions in RHD patients.

Area of Science:

  • Immunogenetics
  • Cardiovascular Medicine
  • Autoimmune Diseases

Background:

  • Rheumatic Heart Disease (RHD) involves autoimmune responses and CD4+ T cells targeting heart valves.
  • Human Leukocyte Antigen-G (HLA-G) is an immunosuppressive molecule implicated in autoimmune pathogenesis.
  • Genetic variations in the 3' untranslated region (UTR) of HLA-G can affect its expression and disease association.

Purpose of the Study:

  • To investigate the association between two specific HLA-G 3' UTR polymorphisms (14 bp Ins/Del and +3142 C/G) and Rheumatic Heart Disease (RHD).
  • To determine if these genetic variations influence disease susceptibility or severity in RHD patients.

Main Methods:

  • A familial study design involving 99 RHD families (patients, parents, siblings).
  • Genotyping of 14 bp Ins/Del (rs66554220) and +3142 C/G (rs1063320) polymorphisms using PCR.
  • Transmission Disequilibrium (TD) test applied to 70 trio families to assess allele transmission.

Main Results:

  • The +3142 C/C genotype showed a higher frequency in RHD patients, particularly those with combined valvular lesions (CVL).
  • Significant association found between the +3142 C/C genotype and CVL under additive and recessive genetic models.
  • The +3142 C/C genotype was linked to increased odds ratios for RHD and CVL compared to healthy siblings.

Conclusions:

  • The +3142 C/C genotype of HLA-G may be associated with an increased risk of developing RHD.
  • This specific genotype is likely to influence the severity of valvular damage in Rheumatic Heart Disease patients.
Abstract

Keywords:
AutoimmunityHuman leukocyte antigen GPolymorphismRheumatic feverRheumatic heart disease

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