{"entity": "publication", "iuid": "93e7dc3a2f024c8c938c7baf261838a2", "timestamp": "2026-06-10T21:26:09.031Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/93e7dc3a2f024c8c938c7baf261838a2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/93e7dc3a2f024c8c938c7baf261838a2"}}, "title": "Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk.", "authors": [{"family": "Gertow", "given": "Karl", "initials": "K"}, {"family": "Sennblad", "given": "Bengt", "initials": "B"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ"}, {"family": "Ohrvik", "given": "John", "initials": "J"}, {"family": "Zabaneh", "given": "Delilah", "initials": "D"}, {"family": "Shah", "given": "Sonia", "initials": "S"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Fava", "given": "Cristiano", "initials": "C"}, {"family": "Kavousi", "given": "Maryam", "initials": "M"}, {"family": "McLachlan", "given": "Stela", "initials": "S"}, {"family": "Kivim\u00e4ki", "given": "Mika", "initials": "M"}, {"family": "Bolton", "given": "Jennifer L", "initials": "JL"}, {"family": "Folkersen", "given": "Lasse", "initials": "L"}, {"family": "Gigante", "given": "Bruna", "initials": "B"}, {"family": "Leander", "given": "Karin", "initials": "K"}, {"family": "Vikstr\u00f6m", "given": "Max", "initials": "M"}, {"family": "Larsson", "given": "Malin", "initials": "M"}, {"family": "Silveira", "given": "Angela", "initials": "A"}, {"family": "Deanfield", "given": "John", "initials": "J"}, {"family": "Voight", "given": "Benjamin F", "initials": "BF"}, {"family": "Fontanillas", "given": "Pierre", "initials": "P"}, {"family": "Sabater-Lleal", "given": "Maria", "initials": "M"}, {"family": "Colombo", "given": "Gualtiero I", "initials": "GI"}, {"family": "Kumari", "given": "Meena", "initials": "M"}, {"family": "Langenberg", "given": "Claudia", "initials": "C"}, {"family": "Wareham", "given": "Nick J", "initials": "NJ"}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG"}, {"family": "Gabrielsen", "given": "Anders", "initials": "A"}, {"family": "Hedin", "given": "Ulf", "initials": "U"}, {"family": "Franco-Cereceda", "given": "Anders", "initials": "A"}, {"family": "Nyyss\u00f6nen", "given": "Kristiina", "initials": "K"}, {"family": "Rauramaa", "given": "Rainer", "initials": "R"}, {"family": "Tuomainen", "given": "Tomi-Pekka", "initials": "TP"}, {"family": "Savonen", "given": "Kai", "initials": "K"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Mannarino", "given": "Elmo", "initials": "E"}, {"family": "Robertson", "given": "Christine M", "initials": "CM"}, {"family": "Talmud", "given": "Philippa J", "initials": "PJ"}, {"family": "Hedblad", "given": "Bo", "initials": "B"}, {"family": "Hofman", "given": "Albert", "initials": "A"}, {"family": "Erdmann", "given": "Jeanette", "initials": "J"}, {"family": "Reilly", "given": "Muredach P", "initials": "MP"}, {"family": "O'Donnell", "given": "Christopher J", "initials": "CJ"}, {"family": "Farrall", "given": "Martin", "initials": "M"}, {"family": "Clarke", "given": "Robert", "initials": "R"}, {"family": "Franzosi", "given": "Maria Grazia", "initials": "MG"}, {"family": "Seedorf", "given": "Udo", "initials": "U"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}, {"family": "Hansson", "given": "G\u00f6ran K", "initials": "GK"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Samani", "given": "Nilesh J", "initials": "NJ"}, {"family": "Watkins", "given": "Hugh", "initials": "H"}, {"family": "Price", "given": "Jacqueline F", "initials": "JF"}, {"family": "Hingorani", "given": "Aroon D", "initials": "AD"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Witteman", "given": "Jacqueline C M", "initials": "JC"}, {"family": "Baldassarre", "given": "Damiano", "initials": "D"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Humphries", "given": "Steve E", "initials": "SE"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}], "type": "journal article", "published": "2012-12-00", "journal": {"volume": "5", "issn": "1942-3268", "issue": "6", "pages": "656-665", "title": "Circ Cardiovasc Genet", "issn-l": null}, "abstract": "Carotid intima-media thickness (cIMT) is a widely accepted marker of subclinical atherosclerosis. To date, large-scale investigations of genetic determinants of cIMT are sparse.\n\nTo identify cIMT-associated genes and genetic variants, a discovery analysis using the Illumina 200K CardioMetabochip was conducted in 3430 subjects with detailed ultrasonographic determinations of cIMT from the IMPROVE (Carotid Intima Media Thickness [IMT] and IMT-Progression as Predictors of Vascular Events in a High Risk European Population) study. Segment-specific IMT measurements of common carotid, bifurcation, and internal carotid arteries, and composite IMT variables considering the whole carotid tree (IMT(mean), IMT(max), and IMT(mean-max)), were analyzed. A replication stage investigating 42 single-nucleotide polymorphisms for association with common carotid IMT was undertaken in 5 independent European cohorts (total n=11,590). A locus on chromosome 16 (lead single-nucleotide polymorphism rs4888378, intronic in CFDP1) was associated with cIMT at significance levels passing multiple testing correction at both stages (array-wide significant discovery P=6.75 \u00d7 10(-7) for IMT(max); replication P=7.24\u00d710(-6) for common cIMT; adjustments for sex, age, and population substructure where applicable; minor allele frequency 0.43 and 0.41, respectively). The protective minor allele was associated with lower carotid plaque score in a replication cohort (P=0.04, n=2120) and lower coronary artery disease risk in 2 case-control studies of subjects with European ancestry (odds ratio [95% confidence interval] 0.83 [0.77-0.90], P=6.53 \u00d7 10(-6), n=13 591; and 0.95 [0.92-0.98], P=1.83 \u00d7 10(-4), n=82 297, respectively). Queries of human biobank data sets revealed associations of rs4888378 with nearby gene expression in vascular tissues (n=126-138).\n\nThis study identified rs4888378 in the BCAR1-CFDP1-TMEM170A locus as a novel genetic determinant of cIMT and coronary artery disease risk in individuals of European descent.", "doi": "10.1161/CIRCGENETICS.112.963660", "pmid": "23152477", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "CIRCGENETICS.112.963660"}], "notes": [], "created": "2017-05-04T15:00:56.255Z", "modified": "2021-07-07T15:11:02.596Z"}