open access

Vol 51, No 2 (2017)
Original research articles
Submitted: 2016-05-11
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Association between C677T polymorphism of MTHFR gene and risk of amyotrophic lateral sclerosis: Polish population study and a meta-analysis

Kamila Żur-Wyrozumska1, Joanna Pera1, Anna Dziubek1, Małgorzata Sado1, Aleksandra Golenia1, Agnieszka Słowik1, Tomasz Dziedzic1
DOI: 10.1016/j.pjnns.2017.01.008
·
Neurol Neurochir Pol 2017;51(2):135-139.
Affiliations
  1. Department of Neurology, Jagiellonian University Medical College, Krakow, Poland

open access

Vol 51, No 2 (2017)
Original research articles
Submitted: 2016-05-11

Abstract

Objective

Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the meta-analysis assessing the significance this polymorphism for the risk of ALS in Caucasian population.

Methods

We included 251 patients with ALS and 500 control subjects recruited from Polish population and performed the meta-analysis of published data from Caucasian population. MTHFR C677T polymorphism was genotyped using a TaqMan assay and 7900HT Fast real Time PCR System.

Results

The frequency of genotypes did not differ significantly between Polish ALS patients and control subjects (CC: 45.0 vs 45.8%, CT: 48.2 vs 45.0%, TT: 6.8 vs 9.2%, P=0.46). The meta-analysis including 863 ALS patients and 1362 controls revealed that TT genotype increases the risk of sporadic ALS in Caucasian population.

Conclusion

Although we did not find the association between C677T polymorphism of MTHRF gene and risk of ALS in Polish population, the results of meta-analysis suggest that the TT genotype can be a genetic risk factor for ALS in Caucasian population.

Abstract

Objective

Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the meta-analysis assessing the significance this polymorphism for the risk of ALS in Caucasian population.

Methods

We included 251 patients with ALS and 500 control subjects recruited from Polish population and performed the meta-analysis of published data from Caucasian population. MTHFR C677T polymorphism was genotyped using a TaqMan assay and 7900HT Fast real Time PCR System.

Results

The frequency of genotypes did not differ significantly between Polish ALS patients and control subjects (CC: 45.0 vs 45.8%, CT: 48.2 vs 45.0%, TT: 6.8 vs 9.2%, P=0.46). The meta-analysis including 863 ALS patients and 1362 controls revealed that TT genotype increases the risk of sporadic ALS in Caucasian population.

Conclusion

Although we did not find the association between C677T polymorphism of MTHRF gene and risk of ALS in Polish population, the results of meta-analysis suggest that the TT genotype can be a genetic risk factor for ALS in Caucasian population.

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Keywords

Genetics, Amyotrophic lateral sclerosis, Polymorphism, 5,10-Methylenetetrahydrofolate reductase

About this article
Title

Association between C677T polymorphism of MTHFR gene and risk of amyotrophic lateral sclerosis: Polish population study and a meta-analysis

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 51, No 2 (2017)

Pages

135-139

Page views

359

Article views/downloads

721

DOI

10.1016/j.pjnns.2017.01.008

Bibliographic record

Neurol Neurochir Pol 2017;51(2):135-139.

Keywords

Genetics
Amyotrophic lateral sclerosis
Polymorphism
5
10-Methylenetetrahydrofolate reductase

Authors

Kamila Żur-Wyrozumska
Joanna Pera
Anna Dziubek
Małgorzata Sado
Aleksandra Golenia
Agnieszka Słowik
Tomasz Dziedzic

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