title: RAS and MTHFR gene polymorphisms in a healthy exercise-trained population: association with the MTHFR (TT) genotype and a lower hemoglobin level.
abstract: The aim of this study was to determine the frequencies of ACE (I/D), AGT (M235T), AT1R (A1166C) and MTHFR (C677T) polymorphisms in a well-defined (in regards to health and nutritional status and lifestyle) population of young, healthy, exercise-trained subjects (no. 100) from the Campania region of Southern Italy. We also investigated whether there was any correlation between these polymorphisms and biochemical, hematological and hemostatic parameters in this "low-risk" population. Gene polymorphisms were analyzed with the polymerase chain reaction and restriction enzyme analysis. Allele frequencies of the genotypes examined were in Hardy-Weinberg equilibrium and agree with those reported in the Italian population. No associations were found between ACE, AGT, AT1R gene polymorphisms and anthropometric, clinical and laboratory parameters. However, the MTHFR (C677T) polymorphism was significantly associated with lower hemoglobin plasma levels in TT vs. CC + CT females (p < 0.016). This report is the first to describe the frequencies of RAS and MTHFR gene polymorphisms in young, exercise-trained volunteers from Campania and to identify an association between the MTHFR gene polymorphisms and lower hemoglobin plasma levels in young healthy females.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Fortunato
authors.forename: O
authors.initials: O
authors.lastname: Fattoruso
authors.forename: M
authors.initials: M
authors.lastname: De Caterina
authors.forename: A
authors.initials: A
authors.lastname: Mancini
authors.forename: R
authors.initials: R
authors.lastname: Di Fiore
authors.forename: A
authors.initials: A
authors.lastname: Alfieri
authors.forename: D
authors.initials: D
authors.lastname: Tafuri
authors.forename: P
authors.initials: P
authors.lastname: Buono
mesh_terms: D000328:Adult; D000808:Angiotensinogen / Q000235:genetics*; D015444:Exercise; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006304:Health Status; D006454:Hemoglobins / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D044140:Receptor, Angiotensin, Type 1; D000808:Angiotensinogen; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D007703:Peptidyl-Dipeptidase A