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Neurobiol Aging. 2014 Apr;35(4):935.e1-2. doi: 10.1016/j.neurobiolaging.2013.09.018. Epub 2013 Oct 12.

DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.

Author information

1
Human Genetics, Genome Institute of Singapore, A*STAR, 138672 Singapore.
2
Departments of Neurology, Singapore General Hospital, National Neuroscience Institute, 169108, Singapore.
3
Departments of Neurology, Singapore General Hospital, National Neuroscience Institute, 169108, Singapore; Duke-NUS Graduate Medical School, Singapore. Electronic address: tan.eng.king@sgh.com.sg.

Abstract

Mutations in DNAJC13, DNAJC6 and DNAJC5 have been implicated in Parkinson's disease (PD). To determine if rare coding variants in these genes play a role in PD risk in the Chinese population, we sequenced all coding exons of the three genes in 99 early-onset PD cases and 99 controls, and genotyped 8 missense variants in another 711 PD cases and 539 controls. Besides two common missense variants that did not show association with PD, the remaining missense variants were extremely rare (<0.5%), found in healthy population controls and did not show enrichment in PD cases. Our results suggest that missense mutations in DNAJC13, DNAJC5 and DNAJC6 do not play a major role in PD in the Chinese population.

KEYWORDS:

Association; Chinese population; DNAJ family; Mutation; Parkinson's disease

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