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