- •We performed genome-wide association analysis of carotid plaque (PS) in two cohorts.
- •We detected two loci with genome-wide significance and two with suggestive evidence.
- •9p21 locus of coronary artery disease (CAD) showed strongest association with PS.
- •We observed an enrichment of PS associations for known CAD loci.
Background and aims
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Genetics of coronary artery disease and myocardial infarction–2013.Curr. Cardiol. Rep. 2013; 15: 368https://doi.org/10.1007/s11886-013-0368-0
- A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.Nat. Genet. 2015; 47: 1121-1130https://doi.org/10.1038/ng.3396
- Prediction of clinical cardiovascular events with carotid intima-media thickness: a systematic review and meta-analysis.Circulation. 2007; 115: 459-467https://doi.org/10.1161/CIRCULATIONAHA.106.628875
- Lessons from the past and promises for the future for carotid intima-media thickness.J. Am. Coll. Cardiol. 2012; 60: 1599-1604https://doi.org/10.1016/j.jacc.2011.12.061
- Common carotid intima-media thickness measurements in cardiovascular risk prediction: a meta-analysis.JAMA. 2012; 308: 796-803https://doi.org/10.1001/jama.2012.9630
- Carotid plaque burden as a measure of subclinical atherosclerosis: comparison with other tests for subclinical arterial disease in the High Risk Plaque BioImage study.JACC. Cardiovasc. imaging. 2012; 5: 681-689https://doi.org/10.1016/j.jcmg.2012.03.013
- Carotid plaque, compared with carotid intima-media thickness, more accurately predicts coronary artery disease events: a meta-analysis.Atherosclerosis. 2012; 220: 128-133https://doi.org/10.1016/j.atherosclerosis.2011.06.044
- The value of noncoronary atherosclerosis for identifying coronary artery disease: results of the Leipzig LIFE heart study.Clin. Res. Cardiol. official J. Ger. Cardiac Soc. 2016; 105: 172-181https://doi.org/10.1007/s00392-015-0900-x
- Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.Nat. Genet. 2011; 43: 940-947https://doi.org/10.1038/ng.920
- GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb.Atherosclerosis. 2015; 239: 304-310https://doi.org/10.1016/j.atherosclerosis.2015.01.032
- Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.J. neurological Sci. 2014; 344: 27-31https://doi.org/10.1016/j.jns.2014.06.006
- Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.Stroke; a J. Cereb. circulation. 2014; 45: 24-36https://doi.org/10.1161/STROKEAHA.113.002707
- International Stroke Genetics Consortium (ISGC), Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.Lancet Neurology. 2016; 15: 174-184https://doi.org/10.1016/S1474-4422(15)00338-5
- Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in acute stroke treatment.Stroke. 1993; 24: 35-41
- The LIFE-Adult-Study: objectives and design of a population-based cohort study with 10,000 deeply phenotyped adults in Germany.BMC public health. 2015; 15: 691https://doi.org/10.1186/s12889-015-1983-z
- Rationale and design of the Leipzig (LIFE) Heart Study: phenotyping and cardiovascular characteristics of patients with coronary artery disease.PloS one. 2011; 6: e29070https://doi.org/10.1371/journal.pone.0029070
- Use of carotid ultrasound to identify subclinical vascular disease and evaluate cardiovascular disease risk: a consensus statement from the American society of echocardiography carotid intima-media thickness task force. Endorsed by the Society for Vascular Medicine.J. Am. Soc. Echocardiogr. official Publ. Am. Soc. Echocardiogr. 2008; 21 (quiz 189-90): 93-111https://doi.org/10.1016/j.echo.2007.11.011
Affymetrix, I., Axiom Genotyping Solution Data Analysis Guide.
- Quality control and quality assurance in genotypic data for genome-wide association studies.Genet. Epidemiol. 2010; 34: 591-602https://doi.org/10.1002/gepi.20516
- An estimator for pairwise relatedness using molecular markers.Genetics. 2002; 160: 1203-1215
- Population structure and eigenanalysis.PLoS Genet. 2006; 2: e190https://doi.org/10.1371/journal.pgen.0020190
- Second-generation PLINK: rising to the challenge of larger and richer datasets.GigaScience. 2015; 4: 7https://doi.org/10.1186/s13742-015-0047-8
Shaun Purcell, C. C., PLINK.
- How to include chromosome X in your genome-wide association study.Genet. Epidemiol. 2014; 38: 97-103https://doi.org/10.1002/gepi.21782
- A global reference for human genetic variation.Nature. 2015; 526: 68-74https://doi.org/10.1038/nature15393
- Haplotype estimation using sequencing reads.Am. J. Hum. Genet. 2013; 93: 687-696https://doi.org/10.1016/j.ajhg.2013.09.002
- A flexible and accurate genotype imputation method for the next generation of genome-wide association studies.PLoS Genet. 2009; 5: e1000529https://doi.org/10.1371/journal.pgen.1000529
- The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.Nucleic acids Res. 2014; 42: D1001-D1006https://doi.org/10.1093/nar/gkt1229
- Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding locidagger.Hum. Mol. Genet. 2015; 24: 4746-4763https://doi.org/10.1093/hmg/ddv194
- DOSE: an R/Bioconductor package for disease ontology semantic and enrichment analysis.Bioinforma. Oxf. Engl. 2015; 31: 608-609https://doi.org/10.1093/bioinformatics/btu684
- A general framework for estimating the relative pathogenicity of human genetic variants.Nat. Genet. 2014; 46: 310-315https://doi.org/10.1038/ng.2892
- Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: the Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study.Atherosclerosis. 2016; 249: 83-87https://doi.org/10.1016/j.atherosclerosis.2016.03.042
- Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.Nat. Genet. 2011; 43: 333-338https://doi.org/10.1038/ng.784
- Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.Sci. (New York, N.Y.). 2015; 348: 648-660https://doi.org/10.1126/science.1262110
- Systematic identification of trans eQTLs as putative drivers of known disease associations.Nat. Genet. 2013; 45: 1238-1243https://doi.org/10.1038/ng.2756
- A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.Nat. Genet. 2011; 43: 339-344https://doi.org/10.1038/ng.782
- A simple method for converting an odds ratio to effect size for use in meta-analysis.Statistics Med. 2000; 19: 3127-3131
- Alu elements in ANRIL non-coding RNA at chromosome 9p21 modulate atherogenic cell functions through trans-regulation of gene networks.PLoS Genet. 2013; 9: e1003588https://doi.org/10.1371/journal.pgen.1003588
- Expression of Chr9p21 genes CDKN2B (p15(INK4b)), CDKN2A (p16(INK4a), p14(ARF)) and MTAP in human atherosclerotic plaque.Atherosclerosis. 2011; 214: 264-270https://doi.org/10.1016/j.atherosclerosis.2010.06.029
- Circular non-coding RNA ANRIL modulates ribosomal RNA maturation and atherosclerosis in humans.Nat. Commun. 2016; 7: 12429https://doi.org/10.1038/ncomms12429
- ANRIL expression is associated with atherosclerosis risk at chromosome 9p21.Arteriosclerosis, Thrombosis, Vasc. Biol. 2010; 30: 620-627https://doi.org/10.1161/ATVBAHA.109.196832
- Recent studies of the human chromosome 9p21 locus, which is associated with atherosclerosis in human populations.Arteriosclerosis, Thrombosis, Vasc. Biol. 2012; 32: 196-206https://doi.org/10.1161/ATVBAHA.111.232678