Object

This publication is protected and available only for logged users.
This publication is protected and available only for logged users.

Title: The C677T polymorphism of the MTHFR gene and the risk of the development of amyotrophic lateral sclerosis

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 required.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

neurologia

Degree grantor:

Uniwersytet Jagielloński. Collegium Medicum. Wydział Lekarski.

Promoter:

Tomasz Dziedzic

Date issued:

2013

Format:

application/pdf

Identifier:

oai:dl.cm-uj.krakow.pl:3668

Call number:

ZB-120431

ControlNumberVIRTUA:

click here to follow the link

Language:

pol

Access rights:

tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego- Collegium Medicum

Object collections:

Last modified:

Jun 26, 2019

In our library since:

Apr 7, 2014

Number of object content hits:

5

Number of object content views in PDF format

5

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/3668

Show description in RDF format:

RDF

Show description in OAI-PMH format:

OAI-PMH

Edition name Date
ZB-120431 Jun 26, 2019
×

Citation

Citation style:

This page uses 'cookies'. More information