Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson's Disease.

Molecular Neurobiology
Yong-Ping ChenHui-Fang Shang

Abstract

Recent genetic studies clearly indicate that variants in several lysosomal genes act as risk factors for idiopathic Parkinson's disease (PD). Variants in the co-activator of glucocerebrosidase gene (GBA) and the four active saposins (Sap A-D) which are encoded by the prosaposin gene (PSAP) are of particular interest; however, their genetic roles in PD are unknown. Whole-exome sequencing and Sanger sequencing were used to assess the genetic etiology of 400 autosomal dominant inherited PD (ADPD) and 300 sporadic PD (SPD) patients. Variants from public databases, including Genome Aggregation Database-East Asian (GnomAD_EAS) and Chinese Millionome Database (CMDB), were used as control groups. Burden analysis based on gene and domains level were performed to investigate the role of rare PSAP variants in PD. Six rare and likely pathogenic variants, located in the Sap A-D domains, were identified and accounted for 0.75% (3/400) of ADPD and 1.33% (4/300) of SPD in the Chinese population. Based on the gene or domain, burden analysis showed that damaging missense variants in SapC had statistical significance on the risk of developing PD. Interestingly, rs4747203, an intronic variant potentially linked to PSAP expression, was associated w...Continue Reading

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Citations

Oct 26, 2021·Journal of Parkinson's Disease·Yuri L SoseroZiv Gan-Or

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Software Mentioned

EAS
SIFT
Genome Analysis Toolkit ( GATK )
HaplotypeCaller
GnomAD
label
BWA Picard
Combined
Condel
AssotesteR

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