Genetic Variability within the ADA Gene and Left Ventricular Ejection Fraction

Author(s): Gloria-Bottini F, Banci M, Neri A, Magrini A, Bottini E

Background: The role of adenosine as cardio protective factor is well established. Adenosine deaminase (ADA) contributes to the control of adenosine concentration in body fluids and, as ecto-enzyme, to the regulation of adenosine receptors activity. ADA and adenosine receptors expressions have been found down regulated in heart failure. We have studied the relationship between genetic variability within the ADA gene and left ventricular ejection fraction (LVEF).

Methods: The genotypes of three polymorphic sites (SNPs) within the ADA gene have been determined in 346 patients admitted to the hospital for cardiovascular diseases. Informed consent was obtained by the patients to participate to the study that was approved by the Council of Department of Biomedicine and Prevention. The three polymorphic sites in the ADA gene are called ADA1, ADA2 and ADA6. Each locus shows two alleles called ADA1*1 and ADA1*2, ADA2*1 and ADA2*2, ADA6*1 and ADA6*2 respectively.

Results: The joint “ADA2*2 carrier/ADA6*1/*1 genotype” shows a statistically significant lower value of LVEF as compared to other joint genotypes (p=0.004). Such association is statistically significant in subjects with coronary artery disease only.

Conclusions: The study of polymorphic sites of ADA gene could allow to detect subjects with higher risk of cardiac failure following infarction.

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