Methylenetetrahydrofolate Reductase Gene A1298C Polymorphism in Pediatric Stroke—Case–Control and Family-based Study

Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis

“…We found no change in the OR value in the case of the recessive, additive and allelic models. However, in the dominant model after omitting the study of Balcerzyk et al [12], we observed a significant association between the carriers of the MTHFR C allele (cases with AC + CC genotypes) and AIS in children (OR 1.35 95% CI 1.02-1.79, p = 0.035 in the fixed effects model).…”

“…1. Finally, eight case-control studies were included in the meta-analysis with a total number of 426 paediatric patients with AIS and 778 control subjects [12][13][14][20][21][22][23][24].…”

“…Caucasians were the most common race. In order to genotype the MTHFR 1298A>C polymorphism, PCR-RFLP analysis was used in four of the studies [12,13,20,21], CVD StripAssays in two studies [14,22] and Taqman PCR in one study [23]. The genotyping method was not specified in one of the studies [24].…”

“…The genotyping method was not specified in one of the studies [24]. The largest groups of AIS patients were recruited by Balcerzyk et al [12], Herak et al [14] and Komitopoulou et al [22], whereas the fewest patients were recruited by Gelfand et al [23] and Morita et al [24]. The largest group of control subjects was analysed in the study by Sirachainan et al [21] and the lowest one in the study by Biswas et al [13].…”

“…However, the role of another common MTHFR polymorphism, 1298A>C in paediatric stroke, is still uncertain. Conflicting results of the studies on the relationship between the 1298A>C polymorphism and AIS, both in children and adults, can be found [12][13][14][15][16][17]. Previously, it was observed that the MTHFR 1298A>C polymorphism in combined analysis with the 677C>T polymorphism increased homocysteine levels as well as lowered plasma folate levels [18].…”