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Association of GSTT1/GSTM1 and ApoE variants with left ventricular diastolic dysfunction in thalassaemia major

Mable Misha Singh1, Ravindra Kumar2, Satyendra Tewari3

  • 1a Department of Medical Genetics , Sanjay Gandhi Postgraduate Institute of Medical Sciences , Lucknow , India.

Hematology (Amsterdam, Netherlands)
|August 11, 2018
PubMed

Insights

Genetic variants in Glutathione S-transferase M1 (GSTM1) and Apolipoprotein E (ApoE) are linked to diastolic dysfunction in beta-thalassaemia patients. These findings highlight genetic predispositions to cardiac injury from iron overload.

Area of Science:

  • Cardiology
  • Genetics
  • Hematology

Background:

  • Cardiomyopathy is a complication of iron loading in beta-thalassaemia patients due to blood transfusions.
  • Excess iron generates free radicals, leading to oxidative damage.
  • Apolipoprotein E (ApoE) and Glutathione S-transferase (GST) are key in scavenging these free radicals.

Purpose of the Study:

  • To investigate the association between genetic variants of ApoE and GST and diastolic dysfunction in beta-thalassaemia patients.
  • To understand the role of these genetic variants in oxidative stress-induced cardiomyopathy.

Main Methods:

  • Echocardiography was performed on 105 beta-thalassaemia patients (>10 years old).
  • Genotyping of ApoE and GST variants was done using PCR-RFLP.
  • Serum GST levels were measured using ELISA.

Main Results:

  • Diastolic dysfunction was present in 22.8% of patients; left ventricular hypertrophy in 35.2%.
  • A significant association was found between the GSTM1 null allele and diastolic dysfunction.
  • The ApoE E2 allele also showed a positive association with diastolic dysfunction. Serum GST levels correlated positively with diastolic function parameters (e/a and e/e' ratios).

Conclusions:

  • The Glutathione S-transferase M1 null allele and Apolipoprotein E E2 allele predispose individuals to cardiac injury.
  • These genetic factors may contribute to oxidative stress-induced heart damage in beta-thalassaemia.
Abstract

Keywords:
Diastolic dysfunctionapolipoprotein Eglutathione S transferasethalassaemia

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