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Hyperhomocysteinemia is reported to be an independent risk factor for the development of ischemic stroke. Several studies on genetic variants of methylenetetrahydrofolate reductase (MTHFR, which plays a crucial role in regulation of plasma homocysteine concentration) reported an association between C677T gene polymorphism and stroke in some Asian populations. No study but one detected this association in Caucasians. The purpose of the present case-control study was to find a relationship between MTHFR genotypes and stroke in a Polish population. MTHFR genotypes were determined by PCR in 152 patients with ischemic stroke from northwestern Poland and in 135 consecutive newborns from the same population. The TT genotype and the T allele were significantly more frequent in patients than in the control group (11.8% vs. 4.4%, and 34.5% vs. 21.5%, P < 0.01). When males and females were analyzed separately, the differences were statistically significant in both genders. It is concluded that presence of the T allele is a risk factor for ischemic stroke in Polish subjects.
The phenotypes of CAD related to arterial hypertension co-occurrence were analysed in 174 male patients and 117 control men for the associations with the polymorphisms of the MTHFR gene (677C>T and 1298A>C) and the PON1 gene (-108C>T) in relation to age at diagnosis (less or equal and more than 50 years). We noted the increased frequency of the three MTHFR genotypes: CC/AC, CT/AA and CC/CC in the CAD group (65.5%) in comparison to the control group (45.3%), corresponding to the 2.3-fold increased risk of CAD for men with these genotypes (95%CI (1.4-3.7); p=0.0005). The higher increase in risk of CAD was noted for the younger men (OR=3.6; 95%CI(1.6-8.3); p=0.002) and lower for the older (OR=1.8; 95%CI(1.0-3.4); p=0.03). In the normotensive men the greater impact on CAD risk had the homozygous genotypes; the 2.3-fold higher risk was associated with MTHFR CC/AC, CC/CC and TT/AA genotypes (95%CI(1.2-4.4); p=0.01). After adjustment for age, the association between CAD and MTHFR was significant only for the younger normotensive men (OR=2.8; 95%CI (1.0-8.0); p=0.04). Additionally, we found that the younger part of the control group was characterized by higher frequency of the low expression PON1 -108T allele and PON1 -108TT genotype (0.54 and 31.9% respectively) in comparison to the older men (0.41 and 17.1% respectively; p=0.03).
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