Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed.
Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia Department of Neurology, Peking University Third Hospital, Beijing, China University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia.
Ji
J
He
Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Marie
M
Mangelsdorf
Department of Neurology, Peking University Third Hospital, Beijing, China.
Dongsheng
D
Fan
Queensland Brain Institute, University of Queensland, St. Lucia, Brisbane, Australia.
Perry
P
Bartlett
University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia matt.brown@uq.edu.au.
Matthew A
MA
Brown
D000690:Amyotrophic Lateral Sclerosis / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D012107:Research Design; D017421:Sequence Analysis / Q000379:methods
amyotrophic lateral sclerosis; epigenetic study; genetic study; genome-wide association study; next-generation sequencing study