ANXA1 and the risk for early-onset Parkinson's disease

Recently, homozygous missense variants in ANXA1 were identified to cause parkinsonism by segregation analysis in a consanguineous family. However, no further replication has been conducted in a wider range of Parkinson's disease (PD) populations. To investigate the involvement of ANXA1 mutations in PD, we analyzed the rare variants in 743 Chinese early-onset PD (EOPD) patients (age at onset <50) using whole exome sequencing. The over-representation of rare variants in patients was examined with Fisher's exact test at allele and gene levels. We did not find the disease-causing variant described in the original study, and no patient carried other homozygous or compound heterozygous variants of ANXA1. Six rare missense mutations in ANXA1 were identified (minor allele frequency <0.01). No significant association was found between ANXA1 variants and PD at allele and gene levels. Genetic screening of ANXA1 mutations suggested rare variants of ANXA1 were rare in EOPD in the Asian ethnic background. Further explorations with larger sample size were warranted to better understand the role of ANXA1 in PD. (C) 2022 Elsevier Inc. All rights reserved.

Automated summary

A study analyzed rare variants in the ANXA1 gene in 743 Chinese early-onset Parkinson's disease patients and found six rare missense mutations. However, no significant association was found between these variants and Parkinson's disease, indicating that ANXA1 mutations are rare in early-onset Parkinson's disease in the Asian population.