de Groote Pascal, Lamblin Nicolas, Helbecque Nicole, Mouquet Frédéric, Hermant Xavier, Amouyel Philippe, Dallongeville Jean, Bauters Christophe
Service de Cardiologie C, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire de Lille, Boul Prof J Leclercq, 59037 Lille cedex, France.
Am Heart J. 2006 Oct;152(4):736-41. doi: 10.1016/j.ahj.2006.04.003.
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.
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.
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.
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.
既往研究表明，腺苷单磷酸脱氨酶1（AMPD1）基因C34T多态性可能与心脏疾病人群的生存率相关，其中T等位基因具有保护作用。然而，这些研究纳入的患者数量有限，心血管事件较少。
我们前瞻性分析了AMPD1基因C34T多态性对686例与左心室收缩功能障碍相关的稳定型充血性心力衰竭的非亲缘关系白人患者的影响。患者接受了超声心动图、放射性核素血管造影和心肺运动试验。采集血样进行标准检测、激素测定和基因分析。
有517例（75%）CC纯合子、155例（23%）CT杂合子和14例（2%）TT突变纯合子。我们未证明该多态性对整个人群以及患者的缺血性和非缺血性亚组的临床、生物学、超声心动图、放射性核素和运动参数有任何影响。在中位随访期3年期间，有145例心脏相关死亡和6例紧急移植。该多态性对生存率没有影响。
在我们的研究人群中，我们未证明AMPD1基因C34T多态性对主要充血性心力衰竭参数和生存率有任何影响。
