An association of the MTHFD1 c.1958G>A polymorphism in Polish women with epilepsy

• Autorzy: Rozycka A.1, Mostowska A.1, Dorszewska J.2, Jaroszewska-Kolecka J.2, Sniezawska A.2, Jagodzinski P.1 A. , Mostowska A. , Dorszzewska J. , Jaroszewska-Kolecka J. , Sniezawska A. , Jagodzinski P.
• Języki publikacji: EN

Abstrakty

EN

The genetic basis of epilepsy has been substantiated by numerous examples of familial forms of epileptic syndromes. Among these, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and idiopathic generalized epilepsy (IGE) can be mentioned. Most previous studies of epilepsy genetics have implicated ion channel genes. Other studies have noted an increased frequency of the c.677C>T MTHFR gene polymorphism in women with IGE. This study was designed to explore an association of three polymorphisms of the key genes encoding enzymes involved in folate and methionine metabolism with the epileptic disorders in Polish women. The study includes 15 female patients with ADNFLE, 75 female patients with IGE and 110 unrelated healthy women used as a control. In each group the allele and genotype frequencies of MTHFR c.677C>T, MTR c.2756A>G and MTHFD1 c.1958G>A polymorphisms were determined using PCR-RFLP analyzes. Our results supported the association between MTHFR c.677C>T polymorphism and IGE in women, since frequencies of TT homozygotes in IGE female patients were different from the controls as compared with CC homozygotes (P=0.033). However, no statistical differences in the allele frequency and in the proportion of TT and CT versus CC genotypes in these patients and the controls were observed. Otherwise, inclusion of ADNFLE female patients signifi cantly altered genotype frequencies of MTR c.2756A>G polymorphism (GG vs. AA: OR=5.818; P=0.0157). However, statistical differences in allele frequencies of MTR c.2756A>G polymorphism were observed when both idiopathic epilepsies were analyzed with the control group (P=0.0153) as well as when IGE patients were compared separately with the healthy women (0.0388). Similar results were obtained for MTHFD1 c.1958G>A polymorphic transition, although, the differences in allele and genotype frequencies remained statistically signifi cant for each group of the patients as compared to the controls. We found that the 1958A allele appeared with a signifi cantly higher frequency in the IGE subgroup and in both idiopathic epilepsies than in the controls (P=0.0176 and P=0.011, respectively). Moreover, as compared with the 1958GG genotype, the AA and combined GA+AA genotypes were associated with a signifi cantly increased risk of IGE (AA vs. GG: OR=2.647; P=0.0245 and GA+AA vs. GG: OR=2.218; P=0.0136) as well as IGE and ADNFLE considered together (AA vs. GG: OR=2.625; P=0.0197 and GA+AA vs. GG: OR=2.354; P=0.0068). An association between the c.1958G>A polymorphism of the MTHFD1 and IGE was evidenced suggesting a signifi cant role of the methyl cycle in the women with idiopathic epilepsies.

• Wydawca: -
• Czasopismo: Acta Neurobiologiae Experimentalis
• Rocznik: 2009
• Tom: 69
• Numer: 1
• Opis fizyczny: p.92

Twórcy

autor

Rozycka A.1, Mostowska A.1, Dorszewska J.2, Jaroszewska-Kolecka J.2, Sniezawska A.2, Jagodzinski P.1 A.

• Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland

autor

Mostowska A.

• Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland

autor

Dorszzewska J.

• Laboratory of Neurobiology, Department of Neurology, University of Medical Sciences, Poznan, Poland

autor

Jaroszewska-Kolecka J.

• Laboratory of Neurobiology, Department of Neurology, University of Medical Sciences, Poznan, Poland

autor

Sniezawska A.

• Laboratory of Neurobiology, Department of Neurology, University of Medical Sciences, Poznan, Poland

autor

Jagodzinski P.

• Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland