Plasma homocysteine levels, the prevalence of methylenetetrahydrofolate reductase gene C677T polymorphism and macrovascular disorders in systemic sclerosis: risk factors for accelerated macrovascular damage?
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.
Szamosi
Szilvia
S
Department of Rheumatology, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary.
Csiki
Zoltán
Z
Szomják
Edit
E
Szolnoki
Erzsébet
E
Szoke
Gabriella
G
Szekanecz
Zoltán
Z
Szegedi
Gyula
G
Shoenfeld
Yehuda
Y
Szucs
Gabriella
G
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
D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)