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No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population
Authors:Ricci Claudia  Penco Silvana  Benigni Michele  Mosca Lorena  Tarlarini Claudia  Lunetta Christian  Giannini Fabio  Corbo Massimo  Battistini Stefania
Affiliation:a Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy
b Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy
c Centro NEMO, Fondazione Serena, Milan, Italy
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.
Keywords:Amyotrophic lateral sclerosis   MTHFR and PON genes   Association study
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