title: Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis.
abstract: Impairments in DNA repair enzymes have been observed in amyotrophic lateral sclerosis (ALS) tissues, particularly in the activity of the apurinic/apyrimidinic endonuclease 1 (APEX1). Moreover, it was suggested that the common APEX1 Asp148Glu polymorphism might be associated with ALS risk. To further address this question we performed the present study aimed at evaluating the contribution of the APEX1 Asp148Glu polymorphism in sporadic ALS (sALS) risk and clinical presentation, including age and site of onset and disease progression. We screened 134 sALS Italian patients and 129 matched controls for the presence of the APEX1 Asp148Glu polymorphism. No difference in APEX1 Asp148Glu allele and genotype frequencies was found between the groups, nor was the polymorphism associated with age and site of onset or disease progression. Present results do not support a role for the APEX1 Asp148Glu polymorphism in sALS pathogenesis in the Italian population.
authors.affiliation: Department of Neuroscience, Neurological Clinic, University of Pisa, 56126 Pisa, Italy. f.coppede@geog.unipi.it
authors.forename: Fabio
authors.initials: F
authors.lastname: Coppedè
authors.forename: Annalisa
authors.initials: A
authors.lastname: Lo Gerfo
authors.forename: Cecilia
authors.initials: C
authors.lastname: Carlesi
authors.forename: Selina
authors.initials: S
authors.lastname: Piazza
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Livia
authors.initials: L
authors.lastname: Pasquali
authors.forename: Luigi
authors.initials: L
authors.lastname: Murri
authors.forename: Lucia
authors.initials: L
authors.lastname: Migliore
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase