Prosaposin variants in sporadic, familial, and early-onset Parkinson's disease: a Taiwanese case-control study and meta-analysis.

ABSTRACT: Polymorphisms in the PSAP gene, which encodes prosaposin and is involved in the lysosomal function, yielded conflicting results regarding the association with Parkinson's disease (PD). Therefore, this study aims to investigate the role of PSAP in familial PD (FPD), early onset PD (EOPD) with age at onset before 50 years old, and sporadic PD (SPD) among Taiwanese population, and summarize relevant studies via meta-analysis. By sequencing exon 1 to 14 in 183 FPD and 219 EOPD, two novel exonic variants were found in EOPD, including p.A146E (c.437C > A) on exon 5 and p.Y248C (c.743A > G) on exon 7. Furthermore, four previously reported intronic variants (rs142614739/rs74733861), rs749823, rs4747203 and rs885828) in intron 11 and 12 were analyzed in 485 SPD and 712 in-hospital controls, in addi

SUBMITTER: Kuo MC 

PROVIDER: S-EPMC10817969 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature