title: Plasma homocysteine levels, the prevalence of methylenetetrahydrofolate reductase gene C677T polymorphism and macrovascular disorders in systemic sclerosis: risk factors for accelerated macrovascular damage?
abstract: The purpose of this study was to investigate plasma homocysteine (Hcy) levels in patients with systemic sclerosis (SSc) and to study the association between plasma Hcy, C677T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR), and the clinical manifestations in SSc. Associations of Hcy level, C677T MTHFR polymorphism, and macrovascular diseases were investigated in 152 patients with SSc and 58 controls. No significant differences in Hcy levels and MTHFR genotypes were found in SSc patients compared to controls or in SSc patients with limited cutaneous compared to diffuse disease. Significantly higher Hcy concentration was observed in patients with macroangiopathy/thromboembolic events compared to patients without such clinical manifestations (p < 0.05). There was significant correlation between age and macrovascular disorders, between Hcy level and the disease duration (r = 0.164; p < 0.05). Seventy-one percent of patients with macrovascular disorders had MTHFR polymorphism. In addition, 45% of patients with hyperhomocysteinemia had pulmonary hypertension. The presence of MTHFR C677T mutation influences the incidence of macrovascular abnormalities in SSc patients. Elevated Hcy levels may be associated with disease duration and the evolution of macrovascular disorders and pulmonary hypertension in SSc.
authors.affiliation: Department of Rheumatology, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary.
authors.forename: Szilvia
authors.initials: S
authors.lastname: Szamosi
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Csiki
authors.forename: Edit
authors.initials: E
authors.lastname: Szomják
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Szolnoki
authors.forename: Gabriella
authors.initials: G
authors.lastname: Szoke
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Szekanecz
authors.forename: Gyula
authors.initials: G
authors.lastname: Szegedi
authors.forename: Yehuda
authors.initials: Y
authors.lastname: Shoenfeld
authors.forename: Gabriella
authors.initials: G
authors.lastname: Szucs
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D006710:Homocysteine / Q000097:blood / Q000276:immunology*; D006801:Humans; D017380:Hypertrophy, Right Ventricular / Q000503:physiopathology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011658:Pulmonary Fibrosis / Q000503:physiopathology; D012307:Risk Factors; D012595:Scleroderma, Systemic / Q000097:blood / Q000235:genetics* / Q000276:immunology / Q000473:pathology / Q000503:physiopathology; D013923:Thromboembolism / Q000503:physiopathology; D013997:Time Factors
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)