title: Association between polymorphisms in MTHFR and APOA5 and metabolic syndrome in the Greek population.
abstract: Impaired energy homeostasis and low-grade inflammation have been related to components of the metabolic syndrome (MetS) such as dyslipidemia, obesity, and insulin resistance. Single-nucleotide polymorphisms in the genes encoding for IL-6 (g.-634G>C; c.174G>C), TNFα (g.-308G>A), methylenetetrahydrofolate reductase (MTHFR) (c.677C>T), APOC3 (c.3175C>G), and APOA5 (g.-1131T>C) have been implicated in the processes of inflammation and energy intake that take place in the development of MetS manifestations. The aim of this study was to investigate the association between these polymorphisms and MetS, as defined by the National Cholesterol Education Program-Adult treatment Panel III criteria, in the Greek population. Overall, 30 unrelated subjects who met the criteria of MetS and 60 matched control subjects from central Greece were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. There was a significant association between both MTHFR c.677C>T (odds ratio: 4.02; confidence interval: 1.496-10.777; p=0.003) and APOA5 g.-1131T>C (odds ratio: 3.514; confidence interval: 1.065-11.585; p=0.035) and MetS. Analysis of constructed haplotypes showed a highly significant association between 677C-1131T-3175C haplotype and MetS (p<0.0001). Carriers of both MTHFR c.677T and APOA5 g.-1131C were associated with increased triglyceride levels (p=0.001 and p=0.003, respectively), compared with noncarriers. These results support a role for MTHFR and APOA5 as risk factors for MetS and suggest their further validation in larger independent populations.
authors.affiliation: Department of Biochemistry and Biotechnology, University of Thessaly, Larissa, Greece. iovasilopoulos@bio.uth.gr
authors.forename: Yiannis
authors.initials: Y
authors.lastname: Vasilopoulos
authors.forename: Theologia
authors.initials: T
authors.lastname: Sarafidou
authors.forename: Vasilis
authors.initials: V
authors.lastname: Bagiatis
authors.forename: Lambrini
authors.initials: L
authors.lastname: Skriapa
authors.forename: Yiannis
authors.initials: Y
authors.lastname: Goutzelas
authors.forename: Panagiota
authors.initials: P
authors.lastname: Pervanidou
authors.forename: Natalia
authors.initials: N
authors.lastname: Lazopoulou
authors.forename: George P
authors.initials: GP
authors.lastname: Chrousos
authors.forename: Zissis
authors.initials: Z
authors.lastname: Mamuris
mesh_terms: D000328:Adult; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000453:epidemiology / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D055815:Young Adult
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)