[HTML][HTML] What have we learned from genome-wide association studies (GWAS) in Parkinson's disease?

R Fernandez-Santiago, M Sharma - Ageing research reviews, 2022 - Elsevier
After fifteen years of genome-wide association studies (GWAS) in Parkinson's disease (PD),
what have we learned? Addressing this question will help catalogue the progress made …

Crosstalk between different DNA repair pathways contributes to neurodegenerative diseases

S Gupta, P You, T SenGupta, H Nilsen, K Sharma - Biology, 2021 - mdpi.com
Simple Summary Constant exposure to endogenous and environmental factors induces
oxidative stress and DNA damage. Rare brain disorders caused by defects in DNA repair …

Large-scale rare variant burden testing in Parkinson's disease

MB Makarious, J Lake, V Pitz, A Ye Fu, JL Guidubaldi… - Brain, 2023 - academic.oup.com
Parkinson's disease has a large heritable component and genome-wide association studies
have identified over 90 variants with disease-associated common variants, providing deeper …

Expanding causal genes for Parkinson's disease via multi-omics analysis

XJ Gu, WM Su, M Dou, Z Jiang, QQ Duan… - npj Parkinson's …, 2023 - nature.com
Genome‑wide association studies (GWASs) have revealed numerous loci associated with
Parkinson's disease (PD). However, some potential causal/risk genes were still not revealed …

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease

K Senkevich, CE Zorca, A Dworkind, U Rudakou… - Brain, 2023 - academic.oup.com
The association between glucocerebrosidase, encoded by GBA, and Parkinson's disease
(PD) highlights the role of the lysosome in PD pathogenesis. Genome-wide association …

Imputation and reanalysis of ExomeChip Data identifies novel, conditional and joint genetic effects on Parkinson's disease risk

LM Rodrigo, DR Nyholt - Genes, 2021 - mdpi.com
Given that improved imputation software and high-coverage whole genome sequence
(WGS)-based haplotype reference panels now enable inexpensive approximation of WGS …

A multicenter study of genetic testing for Parkinson's disease in the clinical setting

A Kovanda, V Rački, G Bergant, D Georgiev… - npj Parkinson's …, 2022 - nature.com
Parkinson's disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed
the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter …

Joint-tissue integrative analysis identifies high-risk genes for Parkinson's disease

YS Wu, WH Zheng, TH Liu, Y Sun, YT Xu… - Frontiers in …, 2024 - frontiersin.org
The loss of dopaminergic neurons in the substantia nigra and the abnormal accumulation of
synuclein proteins and neurotransmitters in Lewy bodies constitute the primary symptoms of …

Large-scale rare variant burden testing in Parkinson's disease identifies novel associations with genes involved in neuro-inflammation

MB Makarious, J Lake, V Pitz, AY Fu, JL Guidubaldi… - medRxiv, 2022 - medrxiv.org
Parkinson's disease (PD) has a large heritable component and genome-wide association
studies to date have identified over 90 variants associated with PD, providing deeper …

Genomics of Parkinson's Disease: Global and Scalable Approaches Towards Precision Medicine

MB Makarious - 2024 - discovery.ucl.ac.uk
In the field of Parkinson's disease (PD) research, the study of genomics has become
increasingly important, focusing on global and scalable approaches to leverage massive …