Risk variants of the α-synuclein locus and REM sleep behavior disorder in Parkinson's disease: a genetic association study

BMC Neurology
K A BjørnaråM Toft

Abstract

Parkinson's disease is a heterogeneous disorder where genetic factors may underlie clinical variability. Rapid eye movement sleep behavior disorder (RBD) is a parasomnia strongly linked to synucleinopathies, including Parkinson's disease. We hypothesized that SNCA variants conferring risk of Parkinson's disease would also predispose to an RBD phenotype. We assessed possible RBD (pRBD) status using the RBD screening questionnaire and investigated known susceptibility variants for Parkinson's disease located in the α-synuclein (SNCA) and tau (MAPT) gene loci in 325 Parkinson's disease patients. Associations between genetic risk variants and RBD were investigated by logistic regression, and an independent dataset of 382 patients from the Parkinson's Progression Marker Initiative (PPMI) study was used for replication. pRBD was associated with rs3756063 located in the 5' region of SNCA (two-sided p = 0.018, odds ratio 1.44). We replicated this finding in the PPMI dataset (one-sided p = 0.036, odds ratio 1.35) and meta-analyzed the results (two-sided p = 0.0032, odds ratio 1.40). The Parkinson's disease risk variant in the 3' region of SNCA and the MAPT variant showed no association with pRBD. Our findings provide proof of principle ...Continue Reading

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Citations

May 15, 2021·Neurology. Genetics·Isabel Alfradique-DunhamJoshua M Shulman
Jul 3, 2021·NPJ Parkinson's Disease·Camilla Christina PedersenJodi Maple-Grødem

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Methods Mentioned

BETA
genotyping

Software Mentioned

PLINK
Michigan Imputation Server
Genetic Power Calculator
SPSS

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