Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

…, FP Errazquin, T Periñán-Tocino, L Pihlstrom… - The Lancet …, 2019 - thelancet.com
Background Genome-wide association studies (GWAS) in Parkinson's disease have increased
the scope of biological knowledge about the disease over the past decade. We aimed to …

Underrepresented populations in Parkinson's genetics research: current landscape and future directions

…, A Akpalu, G Xiromerisiou, L Stefanis… - Movement …, 2022 - Wiley Online Library
Background Human genetics research lacks diversity; over 80% of genome‐wide association
studies have been conducted on individuals of European ancestry. In addition to limiting …

Genetics of neurodegenerative diseases: an overview

L Pihlstrøm, S Wiethoff, H Houlden - Handbook of clinical neurology, 2018 - Elsevier
Genetic factors are central to the etiology of neurodegeneration, both as monogenic causes
of heritable disease and as modifiers of susceptibility to complex, sporadic disorders. Over …

Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms

…, S Bandres‐Ciga, R Von Coelln, L Pihlstrøm… - Movement …, 2019 - Wiley Online Library
Background Increasing evidence supports an extensive and complex genetic contribution to
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …

Genetic risk factors for cognitive decline in Parkinson's disease: a review of the literature

ES Fagan, L Pihlstrøm - European Journal of Neurology, 2017 - Wiley Online Library
Parkinson's disease is a highly heterogeneous disorder, where genetic factors are likely to
contribute to clinical variability, including susceptibility to cognitive impairment and dementia. …

Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

…, L Vela, F Vives, A Zimprich, L Pihlstrom… - JAMA …, 2021 - jamanetwork.com
Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD)
has led to the discovery of an increasing number of loci shown reliably to be associated …

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

C Blauwendraat, X Reed, L Krohn, K Heilbron… - Brain, 2020 - academic.oup.com
Parkinson’s disease is a genetically complex disorder. Multiple genes have been shown to
contribute to the risk of Parkinson’s disease, and currently 90 independent risk variants have …

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

CM Lill, A Rengmark, L Pihlstrøm, I Fogh… - Alzheimer's & …, 2015 - Wiley Online Library
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of
Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, ie …

[HTML][HTML] Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

L Krohn, K Heilbron, C Blauwendraat… - Nature …, 2022 - nature.com
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during
REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more …

Genetic risk of Parkinson disease and progression: an analysis of 13 longitudinal cohorts

…, J Maple-Grødem, JC Corvol, L Pihlstrøm… - Neurology …, 2019 - AAN Enterprises
Objective To determine if any association between previously identified alleles that confer
risk for Parkinson disease and variables measuring disease progression. Methods We …