肌萎缩侧索硬化症患者中的罕见和常见对氧磷酶基因变异体。
Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
机构信息
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
出版信息
Neurobiol Aging. 2012 Aug;33(8):1845.e1-3. doi: 10.1016/j.neurobiolaging.2012.01.007. Epub 2012 Feb 11.
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.
多态性在对氧磷酶家族（PON）已被报道在肌萎缩侧索硬化症（ALS）患者，但最近的荟萃分析并没有显示出明确的关联。最近，PON 突变也已确定在 ALS 患者。在这项研究中，我们评估了 PON 变异的频率在 1118 例散发性 ALS 患者，93 例家族性 ALS 患者，和 1240 例对照组荷兰血统。我们发现 PON 突变在 1.4%的散发性 ALS 患者，2.1%的家族性 ALS 患者，和 2.5%的对照组。没有显著差异的突变负担罕见变异或等位基因频率的多态性之间的患者和对照组。因此，本研究不支持这样的前提，即突变或多态性 PON 有助于 ALS 的易感性。
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