The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.

ABSTRACT:

Objective

The role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN deficiency.

Methods

In this largest multicenter case control study to evaluate the effect of SMN1 and SMN2 copy numbers in ALS, we used whole genome sequencing data from Project MinE data freeze 2. SMN copy numbers of 6,375 patients with ALS and 2,412 controls were called from whole genome sequencing data, and the reliability of the calls was tested with multiplex ligation-dependent probe amplification data.

Results

The copy number distribution of SMN1 and SMN2 between cases and controls did not show any statistical differences

SUBMITTER: Moisse M 

PROVIDER: S-EPMC8048961 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature