TY - JOUR
T1 - Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients
AU - Van Blitterswijk, Marka
AU - Blokhuis, Anna
AU - Van Es, Michael A.
AU - Van Vught, Paul W.J.
AU - Rowicka, Paulina A.
AU - Schelhaas, Helenius J.
AU - Van der Kooi, Anneke J.
AU - De Visser, Marianne
AU - Veldink, Jan H.
AU - Van den Berg, Leonard H.
N1 - Funding Information:
This work was supported by the VSB fonds, The Brain Foundation of the Netherlands, Prinses Beatrix Fonds, Catharijne Stichting, H. Kersten and M. Kersten, J. R. van Dijk, the Adessium Foundation, and the European Community's Health Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 259867 .
PY - 2012/8
Y1 - 2012/8
N2 - 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.
AB - 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.
KW - Amyotrophic lateral sclerosis
KW - Familial ALS
KW - Genetics
KW - Motor neuron disease
KW - Mutations
KW - Paraoxonase
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UR - http://www.scopus.com/inward/citedby.url?scp=84861903418&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2012.01.007
DO - 10.1016/j.neurobiolaging.2012.01.007
M3 - Article
C2 - 22330174
AN - SCOPUS:84861903418
SN - 0197-4580
VL - 33
SP - 1845.e1-1845.e3
JO - Neurobiology of aging
JF - Neurobiology of aging
IS - 8
ER -