泛素特异性蛋白酶24基因多态性与广东汉族人群散发性帕金森病的关系

doi:10.3969/j.issn.1006-9771.2017.03.021

《Chinese Journal of Rehabilitation Theory and Practice》 ›› 2017, Vol. 23 ›› Issue (3): 345-348.doi: 10.3969/j.issn.1006-9771.2017.03.021

Previous Articles Next Articles

Association between Ubiquitin-specific Proteases 24 Gene Polymorphisms and Sporadic Parkinson's Disease in the Han Guangdong Population

LIN Zhi-jun, CHEN Yu-sen, ZHONG Wang-tao, LIU Zhou, XIAN Wen-chuan, CHEN Xiao-yi, ZHAO Bin

Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524001, China

Received:2016-12-21 Published:2017-03-05 Online:2017-03-31
Contact: Correspondence to CHEN Yu-sen. E-mail: chenyusen925@163.com

Abstract

Abstract: ObjectiveTo explore the association of ubiquitin-specific proteases 24 (USP24) gene polymorphisms with susceptibility to sporadic Parkinson's disease (PD) in the Han Guangdong population. MethodsFrom August, 2006 to January, 2014, single nucleotide polymorphisms (SNPs) of rs12138592 and rs6671533 in the intron region of USP24 were genotyped in 200 patients with sporadic PD and 200 healthy controls using the SNaPshot technique. ResultsThere was significant difference in the allele and genotype frequency of rs12138592 between the patients and the controls (P<0.01), and no significant difference was found in the allele and genotype frequency of rs6671533 (P>0.05). ConclusionThe SNP of rs12138592 in the intron region of USP24 is associated with the susceptibility to sporadic PD in the Han Guangdong population, and the A allele may contribute a protective roles to PD.

Key words: ubiquitin-specific proteases 24, Parkinson's disease, gene polymorphisms

CLC Number:

R742.5

LIN Zhi-jun, CHEN Yu-sen, ZHONG Wang-tao, LIU Zhou, XIAN Wen-chuan, CHEN Xiao-yi, ZHAO Bin. Association between Ubiquitin-specific Proteases 24 Gene Polymorphisms and Sporadic Parkinson's Disease in the Han Guangdong Population[J]. 《Chinese Journal of Rehabilitation Theory and Practice》, 2017, 23(3): 345-348.

References

[1] Samudra N, Patel N, Womack KB, et al. Psychosis in Parkinson disease: a review of etiology, phenomenology, and management [J]. Drugs Aging, 2016, 33(12): 855-863.
[2] Capriotti T, Terzakis K. Parkinson disease [J]. Home Healthc Now, 2016, 34(6): 300-307.
[3] Love KR, Catic A, Schlieker C, et al. Mechanisms, biology and inhibitors of deubiquitinating enzymes [J]. Nat Chem Biol, 2007, 3(11): 697-705.
[4] Zhang L, Gong F. Involvement of USP24 in the DNA damage response [J]. Mol Cell Oncol, 2015, 3(1): e1011888.
[5] Oliveira SA, Li YJ, Noureddine MA. Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease [J]. Am J Hum Genet, 2005, 77(2):252-264.
[6] Li Y, Schrodi S, Rowland C, et al. Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onse Parkinson disease [J]. Hum Mutat, 2006, 27(10): 1017-1023.
[7] 林智君,陈煜森,冼文川,等. 泛素特异蛋白酶24基因内含子rs12138592A/G位点多态性与帕金森病的关系[J]. 中国康复理论与实践, 2011, 17(1): 56-58.
[8] 中华医学会神经病学分会运动障碍及帕金森病学组. 帕金森病的诊断[J]. 中华神经科杂志, 2006, 39(6): 408-409.
[9] Wei W, Luo HB, Yan J, et al. Exploring of new Y-chromosome SNP loci using Pyrosequencing and the SNaPshot methods [J]. Int J Legal Med, 2012, 126(6): 825-833.
[10] 谭玉燕,周海燕,陈生弟. 泛素蛋白酶体系统功能障碍与帕金森病[J]. 临床神经病学杂志, 2007, 20(4): 313-315.
[11] Cook C, Petrucelli L. A critical evaluation of the ubiquitin-proteasome system in Parkinson's disease [J]. Biochim Biophys Acta, 2009, 1792(7): 664-675.
[12] 王素霞,刘媛,吴慧娟,等. 去泛素化酶的研究及其进展[J]. 临床与实验病理学杂志, 2008, 24(6): 734-737.
[13] Wu YR, Chen CM, Chen YC, et al. Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese [J]. Clin Chim Acta, 2010, 411(13-14): 955-958.
[14] Haugarvoll K, Toft M, Skipper L, et al. Fine-mapping and candidate gene investigation within the PARK10 locus [J]. Eur J Hum Genet, 2009, 17(3):336-343.
[15] Zhao B, Song W, Chen YP, et al. Association analysis of single-nucleotide polymorphisms of USP24 and USP40 with Parkinson's disease in the Han Chinese population [J]. Eur Neurol, 2012, 68(3): 181-184.
[16] 莫晓云,迟静薇,李小平,等. 帕金森病病人USP24基因外显子39~68突变筛查[J]. 青岛大学医学院学报, 2010, 46(5): 384-386.
[17] 曲仂,于晓俊,徐华敏,等. USP24基因多态性与中国北方散发性帕金森病相关性[J]. 青岛大学医学院学报, 2014, 50(5): 392-394.

Association between Ubiquitin-specific Proteases 24 Gene Polymorphisms and Sporadic Parkinson's Disease in the Han Guangdong Population

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 1

Metrics

Comments

Recommended 0