Association analysis of PSAP variants in Parkinson's disease patients

• Main Authors: Chao, Yin Xia, Lee, Bernett, Ng, Ebonne Yulin, Lian, Michelle Mulan, Chew, Elaine Guo Yan, Tandiono, Moses, Li, Zheng, Khor, Chiea Chuen, Kumar, Prakash, Tan, Louis C. S., Foo, Jia Nee, Tan, Eng-King
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Biological sciences::Genetics; Parkinson's Disease; Genetics
• Online Access: https://hdl.handle.net/10356/147097
• Institution: Nanyang Technological University

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.