Gene polymorphism of 5,10-methylentetrahydrofolate reductase C677T in patients with antiphospholipid syndrome, relationship with hyperhomocysteinemia, vitamin deficiency and vascular lesions
Summary. The aim of the study was to examine the prevalence of C677T mutation in gene 5,10-methylentetrahydrofolate reductase (5,10-MTHFR) in patients with antiphospholipid syndrome (APS) and to evaluate its relationship with hyperhomocysteinemia, vitamin deficiency and the development of vascular lesions. Materials and methods. 82 patients were examined, including 34 (41.6%) patients with primary antiphospholipid syndrome (PAPS) and 48 (58.4%) — with secondary antiphospholipid syndrome (SAPS). The control group consisted of 37 healthy individuals. The research found that the freuqency of homozygous minor allele carriers (677-TT) MTHFR in the control group was 10.8%, heterozygotes (CT-677) — 37.8% and normal homozygotes (677-CC) — 51.4%, and T-allele frequency was 29.7%. Among patients with APS frequency of normal homozygotes 677-CC was 45.1%, heterozygotes 677-CT — 39%, TT homozygotes 677–15.9%. The frequency of T allele among patients with APS was higher than in control group, and was 35.4%. The groups of patients with APS were not significantly different on the prevalence of 5,10-MTHFR C677T genotypes, although T allele frequency and proportion of patients — 677-TT homozygotes in the group of PAPS were higher than in patients with SAPS, and were 36.8 and 17.7% vs 34.4 and 14.6%, respectively.Studies have shown that polymorphism T/T 5,10-MTHFR gene by 677 nucleotides in patients with APS associated with hyperhomocysteinemia, deficiency of folic acid and cobalamin, and has no connection with antiphospholipid antibodies, markers of inflammation and lipid metabolism. Mutations in the gene 5,10-MTHFR TC677T in patients with APS is not an independent risk factor for vascular lesions because of T677T-homozygotes, heterozygotes and C677T-, C677C-homozygotes revealed no significant intergroup differences in endothelial dysfunction, subclinical and clinical manifestations of vascular lesions.
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