Genetic risk factors for arterial ischemic stroke in children: a possible MTHFR and eNOS gene-gene interplay?
In order to investigate the influence of genetic factors in childhood stroke, we compared the distributions of mutations/ polymorphisms affecting hemostasis and/or endothelial function (factor V [FV] Leiden, factor II [FII] G20210A, methylenetetrahydrofolate reductase [MTHFR] C677T, angiotensin-converting enzyme [ACE] insertion/deletion [ID], and endothelial nitric oxide synthase [eNOS] G894T) among children with stroke and controls. A total number of 26 children with arterial ischemic stroke and a control group of 50 healthy children were included in the study. No statistically significant differences in allelic and genotypic distribution were detected in comparisons between groups. However, when combined genotypes were analyzed, statistical significance was observed for the association of MTHFR CT and eNOS TT gene variants. The results of our study suggest that this genotype combination represents a risk factor of 7.2 (P = .017) for arterial ischemic stroke in children.
Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, 11010 Belgrade, Serbia. qwert@eunet.rs
Valentina
V
Djordjevic
Marija
M
Stankovic
Vesna
V
Brankovic-Sreckovic
Ljiljana
L
Rakicevic
Dragica
D
Radojkovic
D000293:Adolescent; D002545:Brain Ischemia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D020765:Intracranial Arterial Diseases / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020125:Mutation, Missense; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D020521:Stroke / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A