Identification of the BCAR1-CFDP1-TMEM170A Locus as a Determinant of Carotid Intima-Media Thickness and Coronary Artery Disease Risk

K Gertow, B Sennblad, RJ Strawbridge, J Ohrvik, D Zabaneh, S Shah, F Veglia, C Fava, Maryam Kavousi, S McLachlan, M Kivimaki, JL Bolton, L Folkersen, B Gigante, K Leander, M Vikstrom, M Larsson, A Silveira, J Deanfield, BF VoightP Fontanillas, M Sabater-Lleal, GI Colombo, M Kumari, C Langenberg, NJ Wareham, André Uitterlinden, A Gabrielsen, U Hedin, A Franco-Cereceda, K Nyyssonen, R Rauramaa, TP Tuomainen, K Savonen, AJ Smit, P Giral, E Mannarino, CM Robertson, PJ Talmud, B Hedblad, Bert Hofman, J Erdmann, MP Reilly, CJ O'Donnell, M Farrall, R Clarke, MG Franzosi, U Seedorf, AC Syvanen, GK Hansson, P Eriksson, NJ Samani, H Watkins, JF Price, AD Hingorani, O Melander, JCM Witteman, D Baldassarre, E Tremoli, U de Faire, SE Humphries, A Hamsten

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35 Citations (Scopus)


Background-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. Methods and Results-To 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 c Conclusions-This 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. (Circ Cardiovasc Genet. 2012;5:656-665.)
Original languageUndefined/Unknown
Pages (from-to)656-665
Number of pages10
JournalCirculation-cardiovascular genetics
Issue number6
Publication statusPublished - 2012

Research programs

  • EMC MM-01-39-09-A
  • EMC NIHES-01-64-01

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