No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

Claudia Ricci; Silvana Penco; Michele Benigni; Lorena Mosca; Claudia Tarlarini; Christian Lunetta; Fabio Giannini; Massimo Corbo; Stefania Battistini

doi:10.1016/j.neurobiolaging.2011.07.010

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

Neurobiol Aging. 2012 Jan;33(1):208.e7-8. doi: 10.1016/j.neurobiolaging.2011.07.010. Epub 2011 Aug 25.

Authors

Claudia Ricci¹, Silvana Penco, Michele Benigni, Lorena Mosca, Claudia Tarlarini, Christian Lunetta, Fabio Giannini, Massimo Corbo, Stefania Battistini

Affiliation

¹ Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy.

PMID: 21868135
DOI: 10.1016/j.neurobiolaging.2011.07.010

Abstract

The c.677C>T polymorphism in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) has been recently associated with susceptibility to sporadic amyotrophic lateral sclerosis (ALS). We have investigated this association in 450 ALS patients and 700 control subjects from Italy. No significant association was observed at the genotype and allelic level, either for the c.677C>T variant alone or in combination with PON1 polymorphisms. Our negative results suggest that the MTHFR c.677C>T polymorphism is not a risk factor for ALS in the Italian population.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Aryldialkylphosphatase / genetics
Female
Genetic Association Studies*
Homocysteine / blood
Humans
Italy
Male
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Polymorphism, Genetic*
Tetrahydrofolates

Substances

Tetrahydrofolates
Homocysteine
5,10-methylenetetrahydrofolic acid
Methylenetetrahydrofolate Reductase (NADPH2)
Aryldialkylphosphatase
PON1 protein, human