Association Analysis of Proteasome Subunits and Transporter Associated with Antigen Processing on Chinese Patients with Parkinson's Disease.

Association Analysis of Proteasome Subunits and Transporter Associated with Antigen Processing on Chinese Patients with Parkinson's Disease.
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中国帕金森病患者抗原加工相关蛋白酶体亚基和转运蛋白的关联分析

DOI:
10.4103/0366-6999.180513
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发表时间:
2016-05-05
影响因子:
6.1
通讯作者:
Xu PY
Xu PY
中科院分区:
医学2区
文献类型:
--
作者:
Mo MS;Huang W;Sun CC;Zhang LM;Cen L;Xiao YS;Li GF;Yang XL;Qu SG;Xu PY

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背景:蛋白酶体亚单位(Proteasome subunits,PSMB)和抗原加工相关转运蛋白(Transporter associated with antigen processing,TAP)位于人类白细胞抗原(human leukocyte antigen,HLA)II类区域,在神经退行性疾病的免疫应答和蛋白降解中起重要作用。本研究旨在探讨PSMB和TAP基因单核苷酸多态性(SNPs)与帕金森病(PD)的关系。方法:采用病例对照研究方法,对中国人群PSMB 8、PSMB 9、TAP 1和TAP 2基因的SNPs进行分型。受试者包括542例散发性PD患者和674例健康对照。通过SNaPshot测试对PSMB 8、PSMB 9、TAP 1和TAP 2中的9个确定的SNP进行基因分型。结果:rs 17587的分层分析特别针对性别进行。数据显示,与对照组相比,女性患者携带rs 17587-G/G的频率高于(A/A + G/A)。而PSMB 8、TAP 1和TAP 2位点的SNPs基因型频率在PD患者中差异无统计学意义。结论:PSMB 9基因rs 17587-G/G基因型可能增加中国女性患PD的风险,但HLA II类区域的其他SNPs与PD无连锁关系。
Background: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). Methods: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. Results: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. Conclusion: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.