ISSN:
1432-1076
Keywords:
Key words MTHFR C677T
;
Homocysteine
;
F V G1691A
;
Prothrombin G20210A
;
Childhood venous thrombosis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Controlled data on the association of MTHFR genotypes, hyperhomocysteinaemia and their interaction with factor V G1691A with childhood thrombosis are not yet available. Therefore we conducted a case-control study comparing 141 childhood patients with venous thrombosis with 345 healthy controls. The MTHFR C677T genotypes, FV G1691A and prothrombin G20210A were evaluated; in addition, fasting homocysteine concentrations were measured in a subgroup of 60 children and 80 healthy controls. 10.4% of the healthy control population showed the MTHFR TT genotype, 34.2% the CT genotype and 55.4% the CC variant. MTHFR genotypes account for fasting homocysteine concentrations in healthy controls (CC: 5.5 μmol/l (4–7.2); CT: 7 μmol/l (3.9–9.8); TT: 12.1 μmol/l (7.7–13.3)) with an upper age-specific 95th percentile of 8.3 μmol/l. The following frequencies (patients versus controls), odds ratios (OR) and 95% confidence intervals (CI) were found for single defects: MTHFR 677TT genotype (10.6% vs. 10.4%; OR/CI: 1.02/0.54–1.93; P= 0.99) and CT genotype (43.8% vs. 34.2%; OR/CI: 2.12/1.42–3.16; P= 0.0000). A combination of FV G1691A mutation and MTHFR 677CT genotype was found in 9.9% of patients and in 2.9% of the controls (OR/CI: 3.8/1.64–8.75; P= 0.027). Fasting homocysteine median (range) concentrations in the patient group were significantly higher than in the controls (7 μmol/l (3–23) vs. 5.5 μmol/l (3–8.4); P= 0.0004), and homocysteine concentrations 〉8.3 μmol/l were found in 40% of patients vs. 2.5% of the controls (OR/CI: 22/2.64–183; P= 0.0003). Conclusion Data of this childhood case-control study suggest that mildly elevated fasting homocysteine concentrations 〉8.3 μmol/l and the CT genotype of the MTHFR C677T variant are significant risk factors for venous vascular occlusion in children.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/PL00014332
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