Intermediate and Severe Hyperhomocysteinemia with Thrombosis: A Study of Genetic Determinants
作者： Mette Gaustadnes , Niels Rüdiger , Karsten Rasmussen , Jørgen Ingerslev , None
关键词: Pathology 、 Medicine 、 Internal medicine 、 Homocysteine 、 Genetic heterogeneity 、 Cystathionine beta synthase 、 Compound heterozygosity 、 Methylenetetrahydrofolate reductase 、 Gastroenterology 、 Allele frequency 、 Hyperhomocysteinemia 、 Genotype
摘要: Hyperhomocysteinemia is an independent risk factor for cardiovascular disease. In search of genetic factors causing elevated levels total homocysteine in plasma (tHcy), we investigated a cohort consecutively identified, unrelated thrombosis patients (n = 28) having intermediate or severe hyperhomocysteinemia (30 mol/l100 mol/l, respectively). The methylenetetrahydrofolate reductase (MTHFR) 677CT genotype, and the complete cystathionine -synthase (CBS) genotype was determined all patients. We found that MTHFR T/T strongly correlated with hyperhomocysteinemia, being present 73.9 % those cases (17 23). three five compound heterozygosity CBS mutations detected. Among mutations, two novel missense mutations: 1265CT (S422L) 1397C→ T (S466L) were phenotype quite mild, thromboembolism apart. This indicates important to ensure detection possible deficiency, thus enabling treatment. Co-existence common 844ins68 variant significantly higher among (10.7%) as compared controls (1.2%), indicating this combination thrombotic (P < 0.05). few patients, could not be explained by approach, suggesting other implicated.
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