Type

Journal Article

Authors

Orla Hardiman
Daniel G Bradley
Colette G Donaghy
Simon Cronin
Marwa Elamin
Peter Bede
Alice Vajda
Kevin P Kenna
Russell L McLaughlin

Subjects

Psychiatry

Topics
genetic research generation risk factors case control irish genome genome wide association studies genome wide association study amyotrophic lateral sclerosis

A second-generation Irish genome-wide association study for amyotrophic lateral sclerosis. (2014)

Abstract Amyotrophic lateral sclerosis (ALS) is a heritable neurological disease for which the underlying genetic etiology is only partially understood. In Ireland, 83%-90% of cases are currently unexplained. Through large international collaborations, genome-wide association studies (GWASs) have succeeded in identifying a number of genomic loci that contribute toward ALS risk and age at onset. However, for the large proportion of risk that remains unexplained, population specificity of pathogenic variants could interfere with the detection of disease-associated loci. Single-population studies are therefore an important complement to larger international collaborations. In this study, we conduct a GWAS for ALS risk and age at onset in a large Irish ALS case-control cohort, using genome-wide imputation to increase marker density. Despite being adequately powered to detect associations of modest effect size, the study did not identify any locus associated with ALS risk or age at onset above the genome-wide significance threshold. Several speculative associations were, however, identified at loci that have been previously implicated in ALS. The lack of any clear association supports the conclusion that ALS is likely to be caused by multiple rare genetic risk factors. The findings of the present study highlight the importance of ongoing genetic research into the cause of ALS and its likely future challenges.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Orla Hardiman, Daniel G Bradley, Colette G Donaghy, Simon Cronin, Marwa Elamin, Peter Bede, Alice Vajda, Kevin P Kenna, Russell L McLaughlin

Experts in our system

1
Orla Hardiman
Trinity College Dublin
Total Publications: 156
 
2
Daniel Bradley
Trinity College Dublin
Total Publications: 84
 
3
Simon Cronin
University College Cork
Total Publications: 15
 
4
Marwa Elamin
Trinity College Dublin
Total Publications: 22
 
5
Peter Bede
Trinity College Dublin
Total Publications: 40
 
6
Alice Vajda
Trinity College Dublin
Total Publications: 29
 
7
Kevin P Kenna
Trinity College Dublin
Total Publications: 14
 
8
Russell L McLaughlin
Trinity College Dublin
Total Publications: 41