title: Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
abstract: Polymorphisms in the paraoxonase family (PON) have been reported in patients with amyotrophic lateral sclerosis (ALS), but a recent meta-analysis did not show a clear association. Recently, PON mutations have also been identified in ALS patients. In this study, we assessed the frequency of PON variants in 1118 sporadic ALS patients, 93 familial ALS patients, and 1240 control subjects of Dutch descent. We identified PON mutations in 1.4% of sporadic ALS patients, 2.1% of familial ALS patients, and 2.5% of control subjects. There were no significant differences in mutational burden for rare variants or in allele frequencies of polymorphisms between patients and control subjects. Thus, this study does not support the premise that mutations or polymorphisms in PON contribute to ALS susceptibility.
authors.affiliation: Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Marka
authors.initials: M
authors.lastname: van Blitterswijk
authors.forename: Anna
authors.initials: A
authors.lastname: Blokhuis
authors.forename: Michael A
authors.initials: MA
authors.lastname: van Es
authors.forename: Paul W J
authors.initials: PW
authors.lastname: van Vught
authors.forename: Paulina A
authors.initials: PA
authors.lastname: Rowicka
authors.forename: Helenius J
authors.initials: HJ
authors.lastname: Schelhaas
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: Marianne
authors.initials: M
authors.lastname: de Visser
authors.forename: Jan H
authors.initials: JH
authors.lastname: Veldink
authors.forename: Leonard H
authors.initials: LH
authors.lastname: van den Berg
mesh_terms: D000293:Adolescent; D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D043303:Aryldialkylphosphatase / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D043303:Aryldialkylphosphatase