The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients.
BACKGROUND
Previous studies have demonstrated that the adenosine monophosphate deaminase 1 (AMPD1) C34T polymorphism may be associated with survival in cardiac populations with a protective effect of the T allele. However, these studies included limited number of patients with few cardiovascular events.


METHODS
We prospectively analyzed the impact of the C34T polymorphism of the AMPD1 gene in 686 unrelated white patients with stable congestive heart failure related to left ventricular systolic dysfunction. Patients underwent echocardiography, radionuclide angiography, and a cardiopulmonary exercise test. Blood samples were drawn for standard and hormonal determinations and for genetic analysis.


RESULTS
There were 517 (75%) CC homozygotes, 155 (23%) CT heterozygotes, and 14 (2%) TT mutated homozygotes. We did not demonstrate any impact of this polymorphism on clinical, biologic, echocardiographic, radionuclide, and exercise parameters in the whole population and in ischemic and nonischemic subgroups of patients. During a median follow-up period of 3 years, there were 145 cardiac-related deaths and 6 urgent transplantations. There was no impact of this polymorphism on survival.


CONCLUSIONS
In our population, we did not demonstrate any effect of the C34T polymorphism of the AMPD1 gene on major congestive heart failure parameters and on survival.
de Groote
Pascal
P
Service de Cardiologie C, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire de Lille, Boul Prof J Leclercq, 59037 Lille cedex, France. pdegroote@chru-lille.fr
Lamblin
Nicolas
N
Helbecque
Nicole
N
Mouquet
Frédéric
F
Hermant
Xavier
X
Amouyel
Philippe
P
Dallongeville
Jean
J
Bauters
Christophe
C
D000659:AMP Deaminase / Q000235:genetics*; D000225:Adenine; D000328:Adult; D000368:Aged; D003596:Cytosine; D005260:Female; D005838:Genotype; D006333:Heart Failure / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010807:Physical Endurance / Q000235:genetics*; D011110:Polymorphism, Genetic; D011379:Prognosis; D011446:Prospective Studies; D016019:Survival Analysis; D013599:Systole; D018487:Ventricular Dysfunction, Left / Q000150:complications
D007527:Isoenzymes; D003596:Cytosine; D000659:AMP Deaminase; C514117:AMPD1 protein, human; D000225:Adenine