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Related Experiment Video

Updated: Jun 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

SNCA variants are associated with increased risk for multiple system atrophy.

Sonja W Scholz¹, Henry Houlden, Claudia Schulte

¹Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA. scholzs@mail.nih.gov

Annals of Neurology

|May 29, 2009

Summary

Parkinson's disease and multiple system atrophy (MSA) may share genetic roots. A study found specific genetic variations (SNPs) at the SNCA gene significantly increase MSA risk, suggesting a common genetic link.

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Last Updated: Jun 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Neurogenetics
Neurology
Human Genetics

Background:

Parkinson's disease (PD) and multiple system atrophy (MSA) are synucleinopathies, neurodegenerative disorders characterized by alpha-synuclein aggregation.
While clinically distinct, a shared genetic etiology between PD and MSA has been hypothesized but not definitively established.

Purpose of the Study:

To investigate the potential common genetic basis of Parkinson's disease and multiple system atrophy.
To identify specific genetic risk factors that may predispose individuals to MSA.

Main Methods:

A candidate single nucleotide polymorphism (SNP) association study was conducted using 384 SNPs previously identified in a Parkinson's disease genome-wide association study.
The study included 413 MSA cases and 3,974 control subjects, with replication in an additional 108 MSA cases and 537 controls.
Statistical analysis focused on identifying significant associations between SNPs and MSA risk.

Main Results:

Single nucleotide polymorphisms (SNPs) located at the SNCA gene locus showed a significant association with an increased risk of developing MSA.
The combined analysis yielded a highly significant p-value (5.5 x 10(-12)) and an odds ratio of 6.2 for the associated SNPs at the SNCA locus.
Replication analysis confirmed the significant association of these SNCA locus SNPs with MSA risk.

Conclusions:

The findings strongly suggest a shared genetic etiology between Parkinson's disease and multiple system atrophy.
The SNCA gene locus represents a significant genetic risk factor for the development of MSA.
This research provides crucial insights into the genetic underpinnings of synucleinopathies and may inform future diagnostic and therapeutic strategies.