Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Parkinsonism Relat Disord. 2012 Sep;18(8):983-5. doi: 10.1016/j.parkreldis.2012.05.002. Epub 2012 Jun 4.
VPS35 gene mutation has recently been reported in autosomal-dominant, late-onset Parkinson disease (PD). There are no reports regarding the association between VPS35 and Parkinson's disease (PD) in the Chinese population. We conducted a comprehensive genetic analysis of VPS35 gene in a cohort of twenty seven probands belonging to families with autosomal-dominant, late-onset PD, followed up with screening of specific variants in a separate group of 1011 sporadic PD patients and 1016 healthy controls. Our analysis revealed two exonic variants and three intronic variants across the entire VPS35 gene. There was no statistical difference in genotype or allele frequencies of rs3743928 and IVS14-24 t > c variants in VPS35 gene between sporadic PD group and healthy control group. None of the 1011 sporadic PD patients and 1016 controls carried the VPS35 gene c.1858G > A (p.Asp620Asn) mutation. Our data indicated that the VPS35 variants are not associated with PD in the mainland Chinese population.
VPS35 基因突变最近被报道与常染色体显性遗传、晚发性帕金森病（PD）有关。在中国人群中，尚未有关于 VPS35 与帕金森病（PD）之间关联的报道。我们对 27 名属于常染色体显性遗传、晚发性 PD 家族的先证者进行了 VPS35 基因的全面遗传分析，并在另一个 1011 名散发性 PD 患者和 1016 名健康对照者的独立组中对特定变体进行了筛查。我们的分析显示，整个 VPS35 基因存在两个外显子变异和三个内含子变异。在 VPS35 基因中，rs3743928 和 IVS14-24 t>c 变异的基因型或等位基因频率在散发性 PD 组和健康对照组之间没有统计学差异。在 1011 名散发性 PD 患者和 1016 名对照者中，均未携带 VPS35 基因 c.1858G>A(p.Asp620Asn)突变。我们的数据表明，在中国大陆人群中，VPS35 变体与 PD 无关。
