Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan.
PLoS One. 2013;8(1):e54448. doi: 10.1371/journal.pone.0054448. Epub 2013 Jan 16.
A single nucleotide polymorphism GRN rs5848 (3'UTR+78 C>T) was reported to alter the risk for frontotemporal lobar degeneration. Herein, we investigated the effect of GRN rs5848 on the risk of Parkinson's disease (PD) by genotyping 573 Taiwanese patients with PD and 490 age-matched control subjects. Compared to subjects with CC genotype, those with TT genotype had a 1.58-fold increased risk of PD (95% CI: 1.77∼2.34, P = 0.021). PD patients demonstrate a higher frequency of T allele (37.2%) than controls (32.2%; odds ratio [OR] = 1.24, 95% CI: 1.04∼1.49, P = 0.017). This susceptibility was particularly observed in female subjects, in which TT genotype had a 2.16-fold increased risk of PD as compared with controls(95% CI: 1.24∼3.78, P = 0.006). The frequency of T allele (39.3%) in female PD patients was higher than in female control subjects (31.1%; OR = 1.43, CI: 1.11∼1.87, P = 0.007). No association was observed between GRN rs5848 and susceptibility in male subjects. These findings show that the GRN rs5848 TT genotype and T allele are risk factors for female Taiwanese patients with PD.
一个单核苷酸多态性 GRN rs5848（3'UTR+78 C>T）被报道会改变额颞叶变性的风险。在此，我们通过对 573 名台湾 PD 患者和 490 名年龄匹配的对照进行基因分型，研究了 GRN rs5848 对帕金森病（PD）风险的影响。与 CC 基因型的受试者相比，TT 基因型的受试者患 PD 的风险增加了 1.58 倍（95%CI：1.77∼2.34，P=0.021）。PD 患者的 T 等位基因（37.2%）频率高于对照组（32.2%；优势比[OR] = 1.24，95%CI：1.04∼1.49，P=0.017）。这种易感性在女性患者中尤为明显，与对照组相比，TT 基因型患 PD 的风险增加了 2.16 倍（95%CI：1.24∼3.78，P=0.006）。女性 PD 患者的 T 等位基因（39.3%）频率高于女性对照组（31.1%；OR=1.43，CI：1.11∼1.87，P=0.007）。在男性患者中未观察到 GRN rs5848 与易感性之间的关联。这些发现表明，GRN rs5848 TT 基因型和 T 等位基因是台湾女性 PD 患者的风险因素。
