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dbGaP Study Description: Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
dbGaP Study Detail Description: 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. Findings-- 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. Interpretation -- 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. Reprinted from Lancet Neurology, volume 6, Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data, 322-8, 2007, with permission from Elsevier. This study utilized the NINDS Repository Motor Neuron Disease/ALS Study, and neurologically normal controls from the sample population which are banked in the National Institute of Neurological Disorders and Stroke (NINDS Repository) collection for a first stage whole genome analysis.
Records Return:  (540) Show
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Catalog IDDiagnosisCell TypeRaceAgeGenderAffected
ND00412POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian77 YRMaleNo
ND00528POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian75 YRMaleNo
ND00592POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian58 YRFemaleNo
ND00665POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian62 YRMaleNo
ND00672POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian77 YRFemaleNo
ND00674POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian80 YRMaleNo
ND00677POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian61 YRMaleNo
ND00679ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUALB-LymphocyteCaucasian71 YRMaleAt Risk
ND00689POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian56 YRFemaleNo
ND00694POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian59 YRFemaleNo
ND00700POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian74 YRFemaleNo
ND00702POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian62 YRFemaleNo
ND00706POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian64 YRFemaleNo
ND00707POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian78 YRFemaleNo
ND00709POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian72 YRFemaleNo
ND00714POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian58 YRFemaleNo
ND00723POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian64 YRFemaleNo
ND00727POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian74 YRFemaleNo
ND00728POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian62 YRMaleNo
ND00745POPULATION/CONVENIENCE CONTROLB-LymphocyteCaucasian55 YRMaleNo
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