DNAJC12 mutation is rare in Chinese Han population with Parkinson's disease

Publication date: August 2018
Source:Neurobiology of Aging, Volume 68
Author(s): Yu Fan, Zhi-hua Yang, Fang Li, Xin-chao Hu, Yi-wei Yue, Jing Yang, Yu-tao Liu, Han Liu, Yan-lin Wang, Chang-he Shi, Yu-ming Xu
Recently, mutations of DNAJC12 gene were reported to be associated with early-onset parkinsonism, progressive neurodevelopmental delay, and dystonia in several unrelated pedigrees. This study aimed to evaluate DNAJC12 coding mutations in sporadic Chinese Han patients with Parkinson's disease (PD) and test whether an age-of-onset effect exists. Seven hundred two Chinese Han sporadic PD patients, including 181 early-onset PD and 521 late-onset PD, and 728 healthy controls were recruited. No documented disease-causing mutation of DNAJC12 was identified, but we found 7 single-nucleotide polymorphisms. Allele frequencies did not differ between all the PD patients and controls or between any 2 subgroups for all these single-nucleotide polymorphisms. Our study suggests that DNAJC12 mutation is not a risk factor of PD in Chinese Han population, and no age-of-onset effect was verified.



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