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The evolving genetic risk for sporadic ALS.

Summer B Gibson1, Jonathan M Downie2, Spyridoula Tsetsou1

  • 1From the Departments of Neurology (S.B.G., S.T., K.P.F., M.B.B., S.M.P.) and Human Genetics (J.M.D., J.E.F., L.B.J.), University of Utah School of Medicine, Salt Lake City.

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Genetic analysis of amyotrophic lateral sclerosis (ALS) shows known ALS-associated genes confer lower risk for sporadic ALS (SALS) than previously estimated. Incorporating variant pathogenicity reveals a reduced genetic burden in SALS patients compared to controls.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Sporadic amyotrophic lateral sclerosis (SALS) pathogenesis is not fully understood.
  • Known amyotrophic lateral sclerosis (ALS)-associated genes are implicated in familial forms, but their contribution to SALS is debated.

Purpose of the Study:

  • To estimate the genetic risk of known ALS-associated genes in sporadic ALS (SALS) pathogenesis.
  • To combine variant allele frequencies with predicted variant pathogenicity for a more accurate risk assessment.

Main Methods:

  • Whole exome sequencing and repeat expansion PCR in 87 SALS patients of European ancestry.
  • Annotation of DNA variants in 31 ALS-associated genes using MetaSVM to identify rare and deleterious variants.
  • Comparison of genetic burden in SALS patients versus 324 normal controls using odds ratio analysis.

Main Results:

  • Nineteen rare nonsynonymous variants and 7 repeat expansions (5 in C9orf72, 2 in ATXN2) were identified in SALS patients.
  • A total of 17.2% of SALS patients carried a rare, deleterious variant or repeat expansion in an ALS-associated gene.
  • The genetic burden of ALS-associated genes was significantly higher in SALS patients than in controls.

Conclusions:

  • Previous estimates of SALS-predisposing variants relied solely on rarity, potentially overestimating risk.
  • Incorporating variant pathogenicity alongside frequency demonstrates a substantially lower genetic risk contribution from known ALS genes in SALS.
  • This refined approach offers a more accurate understanding of genetic risk factors in SALS.