Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
BACKGROUND
The cause of sporadic ALS is currently unknown. Despite evidence for a role for genetics, no common genetic variants have been unequivocally linked to sporadic ALS. We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases.


METHODS
We undertook a genome-wide association study using publicly available samples from 276 patients with sporadic ALS and 271 neurologically normal controls. 555 352 unique SNPs were assayed in each sample using the Illumina Infinium II HumanHap550 SNP chip.


RESULTS
More than 300 million genotypes were produced in 547 participants. These raw genotype data are freely available on the internet and represent the first publicly accessible SNP data for ALS cases. 34 SNPs with a p value less than 0.0001 (two degrees of freedom) were found, although none of these reached significance after Bonferroni correction.


CONCLUSIONS
We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.
Schymick
Jennifer C
JC
Laboratory of Neurogenetics, National Institute on Aging, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Scholz
Sonja W
SW
Fung
Hon-Chung
HC
Britton
Angela
A
Arepalli
Sampath
S
Gibbs
J Raphael
JR
Lombardo
Federica
F
Matarin
Mar
M
Kasperaviciute
Dalia
D
Hernandez
Dena G
DG
Crews
Cynthia
C
Bruijn
Lucie
L
Rothstein
Jeffrey
J
Mora
Gabriele
G
Restagno
Gabriella
G
Chiò
Adriano
A
Singleton
Andrew
A
Hardy
John
J
Traynor
Bryan J
BJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D030541:Databases, Genetic / Q000592:standards / Q000639:trends; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D015698:Genomic Library; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology / Q000379:methods* / Q000639:trends; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017150:Public Sector / Q000592:standards*; D012016:Reference Values
D005819:Genetic Markers