home > bioproject > PRJNA74875
identifier PRJNA74875
type bioproject
sameAs
sra-study  SRP003229
organism Homo sapiens
title Study of Irish Amyotrophic Lateral Sclerosis (SIALS)
description Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons. Epidemiological studies indicate that 2-5% of cases are familial, usually with an autosomal dominant pattern of inheritance. For a portion of these, causative genes have been identified. The remaining 95% of ALS cases are described as sporadic, and believed to result from a combination of genetic and environmental factors. This study utilized samples from Irish patients with sporadic ALS and Irish control individuals. The aim of the study was to identify susceptibility alleles for ALS in the Irish population. Genome-wide, single-nucleotide polymorphism (SNP) genotyping was undertaken using Illumina 550K version 3 chips. Genotyping data are available on 221 SALS patients and 211 controls. Future work will aim to examine ALS genetic risk at individual sequence level. As an initial step, as of September 2010 we have made available the human... (for more see dbGaP study page.)
data type Phenotype or Genotype
organization
NORTHWESTERN UNIVERSITY
publication
A genome-wide association study of sporadic ALS in a homogenous Irish population.
Analysis of genome-wide copy number variation in Irish and Dutch ALS populations.
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Geographical structure and differential natural selection among North European populations.
external link
properties 
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dbXrefs
sra-run  SRR063778SRR063779SRR063780SRR063781SRR063782SRR063786SRR063787SRR065118
sra-submission  SRA023489
biosample  SAMN00110116
sra-study  SRP003229
sra-sample  SRS114031
sra-experiment  SRX025392SRX025393SRX025394SRX025397SRX025412SRX025415SRX025416SRX026415
distribution JSONJSON-LD
status public
visibility unrestricted-access
dateCreated 2008-09-25T00:00:00+0000
dateModified 2008-09-25T00:00:00+0000
datePublished 2008-09-25T00:00:00+0000