@misc{Żur-Wyrozumska_Kamila_The_2013,
 author={Żur-Wyrozumska, Kamila},
 address={Kraków},
 howpublished={online},
 year={2013},
 school={Wydział Lekarski},
 language={pol},
 abstract={Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease, and though etiopathogenesis of ALS remains unknown, it is considered that the joint effect of genetic factors interacting withenvironmental risk factors determines the disease. Previous studies show that TT genotype of the C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene increases the risk of ALS in German and Swiss populations.The aim of this study was to assess the relationship between the polymorphic variants C677T of the MTHFR gene and the risk of sporadic ALS as well as the course of progression of this disease. The study included 251 sporadic ALS patients diagnosed to have definite or probable ALS and 500 controls. The study shows no differences in genotypes and alleles of C677T MTHFR polymorphism distributions in patients compared with controls. Genotype frequency in ALS patients was CC 45,0%; CT 48,2%; TT 6,8%; and CC 45,8%; CT 45,0%; TT 9,2% in controls (p=0,46). The frequency of the T allele in ALS patients was 55,4%, and 54,2% in controls (p=0,75). No association of particular alleles and genotypes with clinical phenotypes, gender, survival time and age at the onset of disease was found. Metaanalysis revealed that TT genotype could be the risk factor for sporadic ALS. Further studies with high statistical power in other populations with different genetic background are},
 abstract={required.},
 title={The C677T polymorphism of the MTHFR gene and the risk of the development of amyotrophic lateral sclerosis},
 type={Praca doktorska},
 keywords={neurodegeneration, methylenetetrahydrofolate reductase, amyotrophic lateral sclerosis},
}