Neurology Service and CIBERNED, 'Marqués de Valdecilla' University Hospital, Santander, Spain.
Eur J Neurol. 2013 Dec;20(12):1571-3. doi: 10.1111/ene.12090. Epub 2013 Feb 9.
Common genetic variants (rs5848 and rs646776) have been reported as regulators of blood progranulin (GRN) levels in healthy individuals.
To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for common neurodegenerative diseases, we studied 304 patients with Parkinson's disease (PD), 217 individuals with Alzheimer's disease, 131 subjects with mild cognitive impairment, and 126 controls.
The mean concentration of GRN in the serum of patients with PD (319.6 ng/ml) was significantly lower than that of controls (371.5 ng/ml; P = 0.009), whereas there were no significant differences between other groups. Rs646776 minor allele carriers had lower serum GRN levels in each of the four subgroups. There was no correlation between rs5848 genotypes and serum GRN concentrations. Genotype frequencies of both polymorphisms did not differ between groups.
Reduced circulating GRN levels might be associated with PD risk by pathogenic factors different from rs5848 and rs646776 polymorphisms.
已有研究报道常见遗传变异（rs5848 和 rs646776）可调节健康个体的血液颗粒蛋白前体（GRN）水平。
为了评估 rs5848 和 rs646776 多态性对血清 GRN 水平和常见神经退行性疾病风险的影响，我们研究了 304 例帕金森病（PD）患者、217 例阿尔茨海默病患者、131 例轻度认知障碍患者和 126 例对照者。
PD 患者的血清 GRN 平均浓度（319.6ng/ml）显著低于对照组（371.5ng/ml；P=0.009），而其他组之间无显著差异。rs646776 次要等位基因携带者在四个亚组中均具有较低的血清 GRN 水平。rs5848 基因型与血清 GRN 浓度之间无相关性。两种多态性的基因型频率在各组之间无差异。
与 rs5848 和 rs646776 多态性不同，循环 GRN 水平降低可能与 PD 风险的致病因素有关。
