Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
Pilot association study of the β-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
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DOI：
10.1002/mds.20320
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发表时间：
2005-01-01
影响因子：
8.6
通讯作者：
Marder, K
中科院分区：
文献类型：
--
作者：
Clark, LN;Nicolai, A;Marder, K
β-葡萄糖脑苷脂酶基因突变导致戈谢病，这是德系犹太人中最常见的溶酶体脂质沉积病之一。先前已经注意到I型戈谢病患者中帕金森综合征的发生。在这项初步研究中，我们评估了帕金森病（PD）和β-葡萄糖脑苷脂酶基因N370 S等位基因（m. 1226 A>G）在160名帕金森病患者和92名犹太裔对照中。我们观察到PD病例（NS和SS，10.7%）中N370 S基因型的频率高于对照组（NS和SS 4.3%）;然而，差异无统计学意义（X-2 = 3.4，P = 0.2）。17例PD患者携带N370 S等位基因，其中纯合子2例，杂合子15例。N370 S等位基因（m. 1226 A>G）可能与犹太种族患者的PD相关，应在更大规模的研究中进行检查。(C)2004年，《运动障碍协会》。
Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type I Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (m. 1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (X-2 = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (m. 1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study. (C) 2004 Movement Disorder Society.