Article Text

other Versions

PDF
Genetic Analysis of 56 Polymorphisms in 17 Genes involved in Methionine Metabolism in patients with Abdonminal Aortic Aneurysm
  1. Betti Giusti (betti.giusti{at}unifi.it)
  1. University of Florence, Italy
    1. Claudia Saracini (claudiasaracini{at}hotmail.it)
    1. University of Florence, Italy
      1. Paola Bolli (paobolli{at}hotmail.com)
      1. University of Florence, Italy
        1. Alberto Magi
        1. University of Florence, Italy
          1. Ilaria Sestini
          1. University of Florence, Italy
            1. Elena Sticchi
            1. University of Florence, Italy
              1. Giovanni Pratesi
              1. University of Rome, Italy
                1. Raffaele Pulli
                1. University of Florence, Italy
                  1. Carlo Pratesi
                  1. University of Florence, Italy
                    1. Rosanna Abbate
                    1. University of Florence, Italy

                      Abstract

                      Previous studies suggested an association between abdominal aortic aneurysm (AAA) and hyperhomocysteinemia, a complex trait determined by genetic and environmental factors. Our hypothesis was that polymorphisms in genes directly or indirectly involved in methionine metabolism may contribute to AAA susceptibility. We studied 56 polymorphisms in MTHFR, MTR, MTRR, CBS, MTHFD1, SLC19A1, NNMT, TCN2, AHCY, BHMT, BHMT2, FOLH1, TYMS, ENOSF1, SHMT1, PON1, PON2 genes according to their demonstrated/putative function, localization in promoter or regulatory and coding regions and/or heterozygosity values>0.300. Polymorphisms were evaluated by using a primer extension based microarray technology in 423 AAA patients and 423 matched controls. All polymorphisms resulted in Hardy-Weinberg equilibrium in patients and controls. At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (OR=0.41, 95%CI 0.26-0.65) and rs326118 MTRR (OR=0.47, 95%CI 0.29-0.77) polymorphisms resulted independent susceptibility factor for AAA. After haplotype reconstruction, logistic regression analyses adjusted for traditional risk factors and COPD showed a significant association among AAA and AHCY, FOLH1, MTHFD1, MTR, NNMT, PON1 and TYMS haplotypes. Our findings offer new insights in the pathogenesis of AAA.

                      Statistics from Altmetric.com

                      Request permissions

                      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.