Type

Journal Article

Authors

Derek W Morris
Aiden P Corvin
Orla Hardiman
Daniel G Bradley
Ammar Al-Chalabi
Michael Gill
Gary Donohoe
Aleksey Shatunov
Kevin Kenna
Russell Mclaughlin
and 2 others

Subjects

Psychiatry

Topics
expansion frontotemporal dementia sample case control amyotrophic lateral sclerosis irish genome wide association psychosis

Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample. (2013)

Abstract The hexonucleotide repeat expansion 'GGGGCC' at the C9ORF72 gene has been strongly linked with amyotrophic lateral sclerosis and frontotemporal dementia. There is some evidence for clinical and genetic overlap between frontotemporal dementia and schizophrenia. Here, we genotyped the repeat at C9ORF72 in a large Irish psychosis case-control sample (n = 2477). We found no carriers of >30 repeats. We found 7 samples with >22 repeats, 2 schizophrenia cases and 5 controls, but overall we observed no difference in the distribution of the repeat between our case and control samples. By using genome-wide association data to phase haplotypes at this gene, we investigated if carriers of the repeat expansion arose from a single common founder. All samples that carry 17 or more repeats also carry the founder haplotype and overall there is a very strong correlation between repeat length and the founder haplotype (Spearman rho = 0.714, p < 0.001). Our study provides further evidence to bolster the claim that carriers of the repeat expansion at C9ORF72 arose from a single common founder.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Derek W Morris, Aiden P Corvin, Orla Hardiman, Daniel G Bradley, Ammar Al-Chalabi, Michael Gill, Gary Donohoe, Aleksey Shatunov, Kevin Kenna, Russell Mclaughlin and 2 others

Experts in our system

1
Derek Morris
Trinity College Dublin
Total Publications: 150
 
2
Aiden Corvin
Trinity College Dublin
Total Publications: 190
 
3
Orla Hardiman
Trinity College Dublin
Total Publications: 127
 
4
Daniel Bradley
Trinity College Dublin
Total Publications: 76
 
5
Ammar Al-Chalabi
Trinity College Dublin
Total Publications: 19
 
6
Michael Gill
Trinity College Dublin
Total Publications: 260
 
7
Gary Donohoe
Trinity College Dublin
Total Publications: 130
 
8
Kevin P Kenna
Trinity College Dublin
Total Publications: 14
 
9
Russell L McLaughlin
Trinity College Dublin
Total Publications: 39