Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

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• 作者：Marka van Blitterswijk^a ; Anna Blokhuis^a ; Michael A. van Es^a ; Paul W.J. van Vught^a ; Paulina A. Rowicka^a ; Helenius J. Schelhaas^b ; Anneke J. van der Kooi^c ; Marianne de Visser^c ; Jan H. Veldink^a ; ¹ ; Leonard H. van den Berg^a ; ¹ ; ^{L.H.vandenBerg@umcutrecht.nl}
• 关键词：Amyotrophic lateral sclerosis ; Motor neuron disease ; Familial ALS ; Genetics ; Paraoxonase ; Mutations
• 刊名：Neurobiology of Aging
• 出版年：2012
• 期刊代码：202_01974580
• 类别：med
• 出版时间：August, 2012
• 卷：33
• 期：8
• 页码：1845.e1-1845.e3
• 文件大小：337 K

摘要

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.