role of c677t and a1298c mthfr, a2756g mtr and -786 ct enos gene polymorphisms in atrial fibrillation susceptibilityc677t和a1298c mthfr,a2756g地铁和-786年ct以挪士在房颤易感性基因多态性.pdfVIP

Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility 1 1 1 1 1 3 2 1 Betti Giusti *, Anna Maria Gori , Rossella Marcucci , Ilaria Sestini , Claudia Saracini , Elena Sticchi , Francesca Gensini , Cinzia Fatini , Rosanna Abbate1, Gian Franco Gensini3 1 Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, ‘‘DENOTHE’’, University of Florence, Florence, Italy, 2 Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Florence, Italy, 3 Don Carlo Gnocchi ONLUS Foundation, Centro S. Maria agli Ulivi - IRCCS, Florence, Italy Background. Hyperhomocysteinemia has been suggested to play a role in the NonValvular Atrial Fibrillation (NVAF) pathogenesis. Polymorphisms in genes coding for homocysteine (Hcy) metabolism enzymes may be associated with hyperhomocysteinemia and NVAF. Methodologies. 456 NVAF patients and 912 matched controls were genotyped by an electronic microchip technology for C677T and A1298C MTHFR, A2756G MTR, and -786C/T eNOS gene polymorphisms. Hcy was determined by an immunoassay method. Principal Findings. The genotype distribution of the four polymorphisms as well as genotype combinations did not differ in patients and controls. Hcy was higher in patients than in controls (15.2, 95%CI 14.7– 15.7 vs 11.3, 95%CI 11.0–11.6 mmol/L; p,0.0001). In both populations, a genotype-phenotype association (p,0.0001) between Hcy and C677T MTHFR polymorphism was observed; in controls a significant (p = 0.029) association between tHcy and 2786C/T eNOS polymorphism was also observed. At the multivariate analysis the NVAF risk significantly increased