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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.

Fang He1, Julie M Jones1, Claudia Figueroa-Romero1

  • 1Department of Neurology (F.H., C.F.-R., B.C.C., E.L.F., S.A.G., P.K.T.) and Department of Human Genetics (J.M.J., M.H.M.), University of Michigan, Ann Arbor; Veteran Association Health System (B.C.C., P.K.T.), Ann Arbor; and National Center for Biotechnology Information (D.Z.), National Institutes of Health, Bethesda, MD.

Neurology. Genetics
|June 9, 2016
PubMed
Summary

Genetic testing shows that GGGGCC (G4C2) repeat expansions in genes other than C9orf72 are not a common cause of amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). This finding helps narrow down genetic causes of these neurodegenerative diseases.

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Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Genomics

Background:

  • Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are debilitating neurodegenerative diseases.
  • The C9orf72 gene's GGGGCC (G4C2) repeat expansion is a known genetic cause of ALS and FTD.
  • The role of G4C2 repeat expansions in other genetic loci remains largely unexplored.

Purpose of the Study:

  • To investigate whether G4C2 repeat expansions in genes beyond C9orf72 contribute to ALS pathogenesis.
  • To assess the prevalence of G4C2 repeat expansions in a cohort of ALS and FTD patients.

Main Methods:

  • Repeat-primed PCR and fluorescent fragment analysis were used to quantify G4C2 repeat numbers in 28 genes.
  • The study included 199 ALS patients (17 familial, 182 sporadic) and 136 healthy controls.
  • C9orf72 expansions were assessed concurrently, and specific analysis was done for the SETX gene locus in ALS4 patients.

Main Results:

  • C9orf72 G4C2 repeat expansions accounted for a significant proportion of familial (47%) and sporadic (8.8%) ALS cases.
  • While G4C2 repeat variations were noted in RGS14, no large expansions were found, and sizes did not differ between cases and controls.
  • No pathogenic G4C2 repeat expansions were detected in other investigated ALS/FTD risk loci or in ALS4 patients.

Conclusions:

  • G4C2 repeat expansions in loci other than C9orf72 are not a common genetic cause of ALS.
  • This study excludes several candidate genes from being frequent contributors to ALS/FTD, refining our understanding of genetic risk factors.