AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases

• Autorzy: Safranow K. , Suchy J. , Jakubowska K. , Olszewska M. , Binczak-Kuleta A. , Kurzawski G. , Rzeuski R. , Czyzycka E. , Loniewska B. , Kornacewicz-Jach Z. , Ciechanowicz A. , Chlubek D.
• Języki publikacji: EN

Abstrakty

EN

Previous studies showed an association of the common functional polymorphism (C34T, Gln12Stop) in the adenosine monophosphate deaminase-1 (AMPD1) gene with survival in heart failure (HF) and/or coronary artery disease (CAD). The aim of the study was to search for other mutations in selected regions of the AMPD1 gene in Polish CAD and HF patients, and to analyze their associations with obesity and diabetes. Exons 2, 3, 5, and 7 of AMPD1 were scanned for mutations in 97 patients with CAD without HF (CAD+ HF−), 104 patients with HF (HF+), and 200 newborns from North-Western Poland using denaturing high-performance liquid chromatography (DHPLC), polymerase chain reaction–restriction fragment length polymorphism (PCRRFLP), and direct sequencing. Frequencies of AMPD1 C34T mutation, as well as novel A99G, G512A, IVS4-6delT, and C784T sequence alterations, were similar in the three groups, but 860T mutated allele was less frequent in the combined CAD+ HF− and HF+ groups than in the controls (1.7% vs. 4.3%, p=0.040). Heterozygous 34CT genotype was associated with lower (odds ratio [OR]=0.32, 95% confidence interval [CI]=0.13–0.81) and 860AT with higher (OR=13.7, 95%CI= 1.6–118) prevalence of diabetes or hyperglycemia in relation to wild-type homozygotes. Abdominal obesity was more frequent in 860AT patients than in wild-type homozygotes and 34CT heterozygotes (86% vs. 40% vs. 29%, p<0.05). Nine genes containing polymorphisms linked with AMPD1 C34T mutation were found in the HapMap database. AMPD1 C34T nonsense mutation is associated with reduced prevalence of diabetes and obesity in patients with CAD or HF, but A860T substitution seems to exert opposite metabolic effects and should always be accounted for in the studies of the AMPD1 genotype.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2011
• Tom: 52
• Numer: 1
• Opis fizyczny: p.67-76,ref.

Twórcy

autor

Safranow K.

• Pomeranian Medical University, Powstancow Wielkopolskich 72, 70-111, Szczecin, Poland

autor

Suchy J.

• Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland

autor

Jakubowska K.

• Pomeranian Medical University, Powstancow Wielkopolskich 72, 70-111, Szczecin, Poland

autor

Olszewska M.

• Pomeranian Medical University, Powstancow Wielkopolskich 72, 70-111, Szczecin, Poland

autor

Binczak-Kuleta A.

• Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland

autor

Kurzawski G.

• Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland

autor

Rzeuski R.

• Department of Cardiology, Pomeranian Medical University, Szczecin, Poland

autor

Czyzycka E.

• Department of Cardiology, Pomeranian Medical University, Szczecin, Poland

autor

Loniewska B.

• Department of Neonatology, Pomeranian Medical University, Szczecin, Poland

autor

Kornacewicz-Jach Z.

• Department of Cardiology, Pomeranian Medical University, Szczecin, Poland

autor

Ciechanowicz A.

• Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland

autor

Chlubek D.

• Pomeranian Medical University, Powstancow Wielkopolskich 72, 70-111, Szczecin, Poland

Uwagi

PL

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