目的探讨泛素特异性蛋白酶24 (USP24)基因多态性与广东汉族人群散发性帕金森病(PD)的相关性。方法2006年8月至2014年1月,采用SNaPshot技术对200例广东汉族人群散发性PD患者(病例组)和200名健康者(对照组) USP24基因内含子区多态性位点rs12138592和rs6671533进行基因型检测。结果病例组rs12138592位点的等位基因和基因型频率分布与对照组有非常显著性差异(P<0.01),rs6671533位点等位基因和基因型频率分布与对照组无显著性差异(P>0.05)。结论USP24基因内含子区多态性位点rs12138592与广东汉族人群散发性PD易感性相关,A等位基因可能是PD发病的保护因素。
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.
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