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Cited by 236Amyotrophic Lateral Sclerosis ResearchMultiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis

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Dunckley, Travis, Huentelman, Matthew J., Craig, David W., Pearson, John V., Szelinger, Szabolcs, Joshipura, Keta, Halperin, Rebecca F., Stamper, Chelsea +27 more·2007·New England Journal of Medicine
DOI 10.1056/nejmoa070174
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Abstract

Background Approximately 90% of persons with amyotrophic lateral sclerosis (ALS) have the sporadic form, which may be caused by the interaction of multiple environmental factors and previously unknown genes. Methods We performed a genomewide association analysis using 766,955 single-nucleotide polymorphisms (SNPs) found in 386 white patients with sporadic ALS and 542 neurologically normal white controls (the discovery series). Associations of SNPs with sporadic ALS were confirmed in two independent replication populations: replication series 1, with 766 case patients with the disease and 750 neurologically normal controls, and replication series 2, with 135 case patients and 275 controls. Results We identified 10 genetic loci that are significantly associated (P Conclusions Variants of FLJ10986 may confer susceptibility to sporadic ALS. FLJ10986 and 50 other candidate loci warrant further investigation for their potential role in conferring susceptibility to the disease.

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  • ALS is characterized by excessive motor neuron loss in the spinal cord, motor cortex, and brain stem that causes progressive paralysis, muscle atrophy, and death approximately 3-5 years following symptomatic onset.

    “ALS is characterized by excessive motor neuron loss in the spinal cord, motor cortex, and brain stem that causes progressive paralysis, muscle atrophy, and death ~3-5 yr following symptomatic onset (157, 313).”

    From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [157]

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Authors
Dunckley, T., Huentelman, M. J., Craig, D. W., Pearson, J. V., Szelinger, S., Joshipura, K., Halperin, R. F., Stamper, C., Jensen, K. R., Letizia, D., Hesterlee, S. E., Pestronk, A., Levine, T., Bertorini, T., Graves, M. C., Mozaffar, T., Jackson, C. E., Bosch, P., McVey, A., Dick, A., Barohn, R., Lomen-Hoerth, C., Rosenfeld, J., O'Connor, D. T., Zhang, K., Crook, R., Ryberg, H., Hutton, M., Katz, J., Simpson, E. P., Mitsumoto, H., Bowser, R., Miller, R. G., Appel, S. H., & Stephan, D. A.
Affiliations
  • Translational Genomics Research Institute (US)
  • Muscular Dystrophy Association (US)
  • Washington University in St. Louis (US)
  • Phoenix Neurological Associates (US)
  • University of California, Los Angeles (US)
  • University of California, Irvine (US)
  • The University of Texas at San Antonio Health Science Center (US)
  • Mayo Clinic (US)
  • University of Kansas Medical Center (US)
  • University of Pittsburgh (US)
  • Carolinas Medical Center (US)
  • University of California San Diego (US)
  • California Pacific Medical Center (US)
  • Houston Methodist (US)
  • Columbia University Irving Medical Center (US)
ORCID
Venue
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Published
2007-08-23
Volume
357
Issue
8
Pages
775-788
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
DOI
10.1056/nejmoa070174
OpenAlex
W2130271153
Cited by
236
References
2
Citations by year
2026: 1 · 2025: 1 · 2024: 1 · 2023: 5 · 2022: 3 · 2021: 9 · 2020: 8 · 2019: 1 · 2018: 4 · 2017: 8 · 2016: 9 · 2015: 13 · 2014: 16 · 2013: 10 · 2012: 21
FWCI
24.41
Type
journal article
Language
en
Open access
Locations
  • New England Journal of Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
sporadic ALS, genetic susceptibility, single nucleotide polymorphisms, candidate loci, age of onset, sex differences, cerebrospinal fluid
MeSH terms
Amyotrophic Lateral Sclerosis, Cerebrospinal Fluid Proteins, Female, Genotype, Humans, Male, Mutation, Risk Factors, Immunoblotting, Genome, Human, Odds Ratio, Case-Control Studies, Sequence Analysis, DNA, Age of Onset, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide

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