Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

Marka Van Blitterswijk, Anna Blokhuis, Michael A. Van Es, Paul W J Van Vught, Paulina A. Rowicka, Helenius J. Schelhaas, Anneke J. Van der Kooi, Marianne De Visser, Jan H. Veldink, Leonard H. Van den Berg

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
JournalNeurobiology of Aging
Volume33
Issue number8
DOIs
StatePublished - Aug 2012
Externally publishedYes

Fingerprint

Aryldialkylphosphatase
Amyotrophic Lateral Sclerosis
Genes
Mutation
Gene Frequency
Meta-Analysis
Amyotrophic lateral sclerosis 1

Keywords

  • Amyotrophic lateral sclerosis
  • Familial ALS
  • Genetics
  • Motor neuron disease
  • Mutations
  • Paraoxonase

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Aging
  • Developmental Biology
  • Geriatrics and Gerontology

Cite this

Van Blitterswijk, M., Blokhuis, A., Van Es, M. A., Van Vught, P. W. J., Rowicka, P. A., Schelhaas, H. J., ... Van den Berg, L. H. (2012). Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients. Neurobiology of Aging, 33(8). https://doi.org/10.1016/j.neurobiolaging.2012.01.007

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients. / Van Blitterswijk, Marka; Blokhuis, Anna; Van Es, Michael A.; Van Vught, Paul W J; Rowicka, Paulina A.; Schelhaas, Helenius J.; Van der Kooi, Anneke J.; De Visser, Marianne; Veldink, Jan H.; Van den Berg, Leonard H.

In: Neurobiology of Aging, Vol. 33, No. 8, 08.2012.

Research output: Contribution to journalArticle

Van Blitterswijk, M, Blokhuis, A, Van Es, MA, Van Vught, PWJ, Rowicka, PA, Schelhaas, HJ, Van der Kooi, AJ, De Visser, M, Veldink, JH & Van den Berg, LH 2012, 'Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients', Neurobiology of Aging, vol. 33, no. 8. https://doi.org/10.1016/j.neurobiolaging.2012.01.007
Van Blitterswijk, Marka ; Blokhuis, Anna ; Van Es, Michael A. ; Van Vught, Paul W J ; Rowicka, Paulina A. ; Schelhaas, Helenius J. ; Van der Kooi, Anneke J. ; De Visser, Marianne ; Veldink, Jan H. ; Van den Berg, Leonard H. / Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients. In: Neurobiology of Aging. 2012 ; Vol. 33, No. 8.
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