Type

Journal Article

Authors

Orla Hardiman
Daniel G Bradley
Simon Cronin
Colette G Donaghy
Susan Byrne
Mark Heverin
Alice Vajda
Kevin P Kenna
Russell L McLaughlin

Subjects

Psychiatry

Topics
amyotrophic lateral sclerosis case control irish mapping als demographic irish population candidate gene

Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci. (2014)

Abstract Runs of homozygosity are common in European populations and are indicative of consanguinity, restricted population size and recessively inherited traits. Here, we map runs of homozygosity (ROHs) in an Irish case-control cohort for amyotrophic lateral sclerosis (ALS), a devastating neurological condition with high heritability yet only partially established genetic cause. We compare the extent of homozygosity in the Irish cohort with a large British cohort and observe that ROHs are longer and more frequent in the Irish population than in the British, and that extent of ROHs is correlated with demographic factors within the island of Ireland. ROHs are also longer and more frequent in ALS cases compared to population-matched controls, supporting the hypothesis that recessively inherited loci play a pathogenic role in ALS. Comparing homozygous haplotypes between cases and controls reveals several potential recessive risk loci for ALS, including a genomic interval spanning ARHGEF1, a compelling ALS candidate gene.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Orla Hardiman, Daniel G Bradley, Simon Cronin, Colette G Donaghy, Susan Byrne, Mark Heverin, 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
Susan Byrne
Trinity College Dublin
Total Publications: 18
 
5
Mark Heverin
Trinity College Dublin
Total Publications: 21
 
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