eprintid: 2486
rev_number: 165
eprint_status: archive
userid: 151
dir: disk0/00/00/24/86
datestamp: 2007-01-31 12:00:00
lastmod: 2021-10-20 23:47:41
status_changed: 2008-01-09 13:39:07
type: article
metadata_visibility: show
item_issues_count: 0
creators_name: Pimm, J
creators_name: McQuillin, A
creators_name: Thirumalai, S
creators_name: Lawrence, J
creators_name: Quested, D
creators_name: Bass, N
creators_name: Lamb, G
creators_name: Moorey, H
creators_name: Datta, SR
creators_name: Kalsi, G
creators_name: Badacsonyi, A
creators_name: Kelly, K
creators_name: Morgan, J
creators_name: Punukollu, B
creators_name: Curtis, D
creators_name: Gurling, H
title: The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia
subjects: 2991
divisions: UCL
divisions: B02
divisions: C07
divisions: D79
divisions: C08
divisions: D09
divisions: F99
keywords: LINKAGE ANALYSIS, FAMILIES, LOCUS, SUPPORT, TESTS, 5Q
abstract: Chromosome 5q33 is a region that has previously shown good evidence of linkage to schizophrenia, with four LOD scores >3.00 in independent linkage studies. We studied 450 unrelated white English, Irish, Welsh, and Scottish research subjects with schizophrenia and 450 ancestrally matched supernormal controls. Four adjacent markers at the 5' end of the Epsin 4 gene showed significant evidence of linkage disequilibrium with schizophrenia. These included two microsatellite markers, D5S1403 (P = .01) and AAAT11 (P = .009), and two single-nucleotide-polymorphism markers within the Epsin 4 gene, rs10046055 (P = .007) and rs254664 (P = .01). A series of different two- and three-marker haplotypes were also significantly associated with schizophrenia, as confirmed with a permutation test (HapA, P = .004; HapB, P = .0005; HapC, P = .007; and HapD, P = .01). The Epsin 4 gene encodes the clathrin-associated protein enthoprotin, which has a role in transport and stability of neurotransmitter vesicles at the synapses and within neurons. A genetically determined abnormality in the structure, function, or expression of enthoprotin is likely to be responsible for genetic susceptibility to a subtype of schizophrenia on chromosome 5q33.3.
date: 2005-05
date_type: published
publisher: UNIV CHICAGO PRESS
official_url: http://www.ncbi.nlm.nih.gov/pmc/
articles/PMC1199380/?tool=pubmed
vfaculties: VFBRS
rae2008: 9
oa_status: green
pmcid: PMC1199380
primo: open
primo_central: open_green
article_type_text: Article
verified: verified_batch
elements_source: Web of Science
elements_id: 56241
lyricists_name: Bass, Nicholas James
lyricists_name: Curtis, David
lyricists_name: Gurling, Hugh
lyricists_name: McQuillin, Andrew
lyricists_id: NJBAS95
lyricists_id: DCURT26
lyricists_id: HMGUR64
lyricists_id: AMCQU28
full_text_status: public
publication: AM J HUM GENET
volume: 76
number: 5
pagerange: 902 - 907
refereed: TRUE
issn: 0002-9297
citation:        Pimm, J;    McQuillin, A;    Thirumalai, S;    Lawrence, J;    Quested, D;    Bass, N;    Lamb, G;                                     ... Gurling, H; + view all <#>        Pimm, J;  McQuillin, A;  Thirumalai, S;  Lawrence, J;  Quested, D;  Bass, N;  Lamb, G;  Moorey, H;  Datta, SR;  Kalsi, G;  Badacsonyi, A;  Kelly, K;  Morgan, J;  Punukollu, B;  Curtis, D;  Gurling, H;   - view fewer <#>    (2005)    The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia.                   AM J HUM GENET , 76  (5)   902 - 907.          Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/2486/1/2486.pdf