Mo Ming-Shu, Huang Wei, Sun Cong-Cong, Zhang Li-Min, Cen Luan, Xiao You-Sheng, Li Guo-Fei, Yang Xin-Ling, Qu Shao-Gang, Xu Ping-Yi
Department of Neurology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080; Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510120, China.
Chin Med J (Engl). 2016 May 5;129(9):1053-8. doi: 10.4103/0366-6999.180513.
Proteasome subunits (PSMB) and transporter associated with antigen processing (TAP) loci are located in the human leukocyte antigen (HLA) Class II region play important roles in immune response and protein degradation in neurodegenerative diseases. This study aimed to explore the association between single nucleotide polymorphisms (SNPs) of PSMB and TAP and Parkinson's disease (PD).
A case-control study was conducted by genotyping SNPs in PSMB8, PSMB9, TAP1, and TAP2 genes in the Chinese population. Subjects included 542 sporadic patients with PD and 674 healthy controls. Nine identified SNPs in PSMB8, PSMB9, TAP1, and TAP2 were genotyped through SNaPshot testing.
The stratified analysis of rs17587 was specially performed on gender. Data revealed that female patients carry a higher frequency of rs17587-G/G versus (A/A + G/A) compared with controls. But there was no significant difference with respect to the genotypic frequencies of the SNPs in PSMB8, TAP1, and TAP2 loci in PD patients.
Chinese females carrying the rs17587-G/G genotype in PSMB9 may increase a higher risk for PD, but no linkage was found between other SNPs in HLA Class II region and PD.
蛋白酶体亚基（PSMB）和抗原加工相关转运体（TAP）基因座位于人类白细胞抗原（HLA）II类区域，在免疫反应和神经退行性疾病的蛋白质降解中起重要作用。本研究旨在探讨PSMB和TAP的单核苷酸多态性（SNP）与帕金森病（PD）之间的关联。
通过对中国人群PSMB8、PSMB9、TAP1和TAP2基因中的SNP进行基因分型，开展了一项病例对照研究。研究对象包括542例散发性PD患者和674名健康对照。通过SNaPshot检测对PSMB8、PSMB9、TAP1和TAP2中鉴定出的9个SNP进行基因分型。
对rs17587进行了按性别分层的分析。数据显示，与对照组相比，女性患者携带rs17587-G/G的频率高于（A/A + G/A）。但PD患者PSMB8、TAP1和TAP2基因座中SNP的基因型频率无显著差异。
PSMB9中携带rs17587-G/G基因型的中国女性可能增加患PD的风险，但未发现HLA II类区域的其他SNP与PD之间存在连锁关系。
