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Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility

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 matche...

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Autores principales: Giusti, Betti, Gori, Anna Maria, Marcucci, Rossella, Sestini, Ilaria, Saracini, Claudia, Sticchi, Elena, Gensini, Francesca, Fatini, Cinzia, Abbate, Rosanna, Gensini, Gian Franco
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1876814/
https://www.ncbi.nlm.nih.gov/pubmed/17551576
http://dx.doi.org/10.1371/journal.pone.0000495
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author Giusti, Betti
Gori, Anna Maria
Marcucci, Rossella
Sestini, Ilaria
Saracini, Claudia
Sticchi, Elena
Gensini, Francesca
Fatini, Cinzia
Abbate, Rosanna
Gensini, Gian Franco
author_facet Giusti, Betti
Gori, Anna Maria
Marcucci, Rossella
Sestini, Ilaria
Saracini, Claudia
Sticchi, Elena
Gensini, Francesca
Fatini, Cinzia
Abbate, Rosanna
Gensini, Gian Franco
author_sort Giusti, Betti
collection PubMed
description 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 µmol/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 −786C/T eNOS polymorphism was also observed. At the multivariate analysis the NVAF risk significantly increased in the upper quartiles of Hcy compared to the lowest: OR from 2.8 (1.68–4.54 95%CI) in Q2 to 12.9 (7.96–21.06 95%CI) in Q4. CONCLUSIONS: Our data demonstrated the four polymorphisms, although able, at least in part, to affect Hcy, were not associated with an increased risk of NVAF per se or in combination.
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spelling pubmed-18768142007-06-06 Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility Giusti, Betti Gori, Anna Maria Marcucci, Rossella Sestini, Ilaria Saracini, Claudia Sticchi, Elena Gensini, Francesca Fatini, Cinzia Abbate, Rosanna Gensini, Gian Franco PLoS One Research Article 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 µmol/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 −786C/T eNOS polymorphism was also observed. At the multivariate analysis the NVAF risk significantly increased in the upper quartiles of Hcy compared to the lowest: OR from 2.8 (1.68–4.54 95%CI) in Q2 to 12.9 (7.96–21.06 95%CI) in Q4. CONCLUSIONS: Our data demonstrated the four polymorphisms, although able, at least in part, to affect Hcy, were not associated with an increased risk of NVAF per se or in combination. Public Library of Science 2007-06-06 /pmc/articles/PMC1876814/ /pubmed/17551576 http://dx.doi.org/10.1371/journal.pone.0000495 Text en Giusti et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Giusti, Betti
Gori, Anna Maria
Marcucci, Rossella
Sestini, Ilaria
Saracini, Claudia
Sticchi, Elena
Gensini, Francesca
Fatini, Cinzia
Abbate, Rosanna
Gensini, Gian Franco
Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility
title Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility
title_full Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility
title_fullStr Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility
title_full_unstemmed Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility
title_short Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility
title_sort role of c677t and a1298c mthfr, a2756g mtr and -786 c/t enos gene polymorphisms in atrial fibrillation susceptibility
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1876814/
https://www.ncbi.nlm.nih.gov/pubmed/17551576
http://dx.doi.org/10.1371/journal.pone.0000495
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