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|Title:||Association analysis of PSAP variants in Parkinson's disease patients||Authors:||Chao, Yin Xia
Ng, Ebonne Yulin
Lian, Michelle Mulan
Chew, Elaine Guo Yan
Khor, Chiea Chuen
Tan, Louis C. S.
Foo, Jia Nee
|Keywords:||Science::Biological sciences::Genetics||Issue Date:||2021||Source:||Chao, Y. X., Lee, B., Ng, E. Y., Lian, M. M., Chew, E. G. Y., Tandiono, M., Li, Z., Khor, C. C., Kumar, P., Tan, L. C. S., Foo, J. N. & Tan, E. (2021). Association analysis of PSAP variants in Parkinson's disease patients. Brain : a Journal of Neurology, 144(1), e9-. https://dx.doi.org/10.1093/brain/awaa358||Journal:||Brain : a journal of neurology||Abstract:||We read with interest the recent report by Oji and colleagues who identified three exonic mutations in the prosaposin (PSAP) gene from three families with Parkinson’s disease. In addition, a case control study involving 440 Japanese and 705 patients with sporadic Parkinson’s disease from Taiwan demonstrated that that intronic variants (rs4747203 and rs885828) located in the PSAP saposin D domain increased the risk of Parkinson’s disease (Oji et al., 2020). Since the sample size for the association study was relatively small, and independent replication is a litmus test for the reproducibility of the findings, we investigated for exome and intronic variants in a much larger sample size in our Asian population.||URI:||https://hdl.handle.net/10356/147097||ISSN:||0006-8950||DOI:||10.1093/brain/awaa358||Rights:||© 2021 The Author(s). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. This paper was published in Brain : a journal of neurology and is made available with permission of The Author(s). Published by Oxford University Press on behalf of the Guarantors of Brain.||Fulltext Permission:||embargo_20220131||Fulltext Availability:||With Fulltext|
|Appears in Collections:||LKCMedicine Journal Articles|
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