Genome-wide estimate of the heritability of Multiple System Atrophy.

ABSTRACT:

Introduction

Multiple System Atrophy (MSA) is a neurodegenerative disease which presents heterogeneously with symptoms and signs of parkinsonism, ataxia and autonomic dysfunction. Although MSA typically occurs sporadically, rare pathology-proven MSA families following either autosomal recessive or autosomal dominant patterns have been described, indicating a heritable contribution to the pathogenesis.

Methods

We used Genome-Wide Complex Trait Analysis (GCTA) to estimate the heritable component of MSA due to common coding variability in imputed genotype data of 907 MSA cases and 3866 population-matched controls. GCTA only assesses the effect of putative causal variants in linkage disequilibrium (LD) with all common SNPs on the genotyping platform.

Results

We estimate t

SUBMITTER: Federoff M 

PROVIDER: S-EPMC4695377 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature