engleski

Prevalence of hyperhomocysteinemia and its association with C677T MTHFR polymorphism, vitamin B12 and folate levels in Croatian children with cerebrovascular accidents

Mild hyperhomocysteinemia is well documented as a risk factor for stroke in eldery but in paediatric population results are still inconclusive. The aim of the study was to determine frequency of increased total plasma homocysteine (tHcy) levels, its relationship with levels of serum folate and vitamin B12 as well as with presence of C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene in children with cerebrovascular accidents (CVAs) with either ischemic stroke (IS) or transient ischemic attack (TIA). Levels of tHcy, folate, vitamin B12 and presence of the MTHFR C667T polymorphism were determined by standard methods in 124 patients aged below 18 years admitted at the Department of Neuropediatrics in Children‘s Hospital Zagreb under diagnosis of IS and TIA. Increased levels of tHcy were recorded in 16/124 (12.9%) patients. Low folate levels were found in 42/124 (33.9%) patients whereas all of patients had regular levels of vitamin B12. MTHFR C667T polymorphism was observed in 38/124 (30.6%) patients (TT and CT genotype in 9 (7.3%) and 29 (23.4%) of cases, respectively). The polymorphism was observed in 7/16 patients with hyperhomocysteinemia, and 16/42 patients with low folate levels. Furthermore, decreased folate levels were recorded in 6/16 patients with hyperhomocysteinemia, whereas concomitant presence of increased tHcy, decreased folates and MTHFR C667T polymorphism were recorded in 3/16 patients. By testing interconnectivity between all observed parameters, significant association was found between decreased folate levels and the presence of the MTHFR C667T polymorphism (TT and CT genotype) (c2 = 3934, p = 0.047, contingency coefficient = 0.278). No significant association between hyperhomocysteinemia and the polymorphism or decreased folate levels was observed. We found out relatively high incidence of decreased folate levels as well as MTHFR C667T polymorphism in children with CVAs, but without proportional increase in homocysteine levels. In approximately 40% of patients the reason for decreased folate levels is presence of MTHFR polymorphism and only 18% (1/5) of them will develop hyperhomocysteinemia. Therefore it could be presumed that these are not main factors responsible for hyperhomocisteinemia. Moreover, overall prevalence of hyperhomocysteinemia (~13%) makes this group of risk factors less significant in aethiology of children CVAs

child ; stroke ; TIA ; risk factors ; homocysteine pathway

Oral communications - oral poster presentation ; http://dx.doi.org/10.1016/S0049-3848(14)50091-6 ; 10.1016/S0049-3848(14)50091-6