Amyotrophic lateral sclerosis as a complex genetic disease.
In complex diseases like ALS, there are multiple genetic and environmental factors all contributing to disease liability. The genetic factors causing susceptibility to developing ALS can be considered a spectrum from single genes with large effect sizes causing classical Mendelian ALS, to genes of smaller effect, producing apparently sporadic disease. We examine the statistical genetic principles that underpin this model and review what is known about ALS as a disease with complex genetics.
Simpson
Claire L
CL
MRC Centre for Neurodegeneration Research P 043, King's College London, Institute of Psychiatry, London SE5 8AF, UK.
Al-Chalabi
Ammar
A
D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D000818:Animals; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007382:Intermediate Filaments / Q000235:genetics / Q000378:metabolism; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D009474:Neurons / Q000378:metabolism; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1