Chromosome 9p21 genetic variation explains 13% of cardiovascular disease incidence but does not improve risk prediction

Journal of Internal Medicine

Volumn 274, Issue 3, 2013, Pages 233-240

  Gransbo K ^a,b   Almgren, P ^b   Sjogren M ^b   Smith, J G ^b   Engstrom G ^b   Hedblad, B ^a,b   Melander, O ^a,b  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

Author keywords

Cardiovascular; Chromosome 9p21; Genetics; Population study; Prediction

Indexed keywords

ADULT; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CHROMOSOME; CHROMOSOME 9P21; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENETIC VARIABILITY; GENOTYPE; GROUPS BY AGE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL;

CARDIOVASCULAR; CHROMOSOME 9P21; GENETICS; POPULATION STUDY; PREDICTION;

ALLELES; CARDIOVASCULAR DISEASES; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; INCIDENCE; LOGISTIC MODELS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS;

EID: 84881557546     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/joim.12063     Document Type: Article

References (25)

1. Helgadottir A, Thorleifsson G, Manolescu A et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007; 316: 1491-3.
2. Kathiresan S, Voight BF, Purcell S et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009; 41: 334-41.
3. McPherson R, Pertsemlidis A, Kavaslar N et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007; 316: 1488-91.
4. Samani NJ, Erdmann J, Hall AS et al. Genome wide association analysis of coronary artery disease. N Engl J Med 2007; 357: 443-53.
5. Gschwendtner A, Bevan S, Cole JW et al. Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke. Ann Neurol 2009; 65: 531-39.
6. Smith JG, Melander O, Lovkvist H et al. Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study. Circ Cardiovasc Genet 2009; 2: 159-64.
7. Nora JJ, Lortscher RH, Spangler RD, Nora AH, Kimberling WJ. Genetic-epidemiologic study of early-onset ischemic heart disease. Circulation 1980; 61: 503-8.
8. Palomaki GE, Melillo S, Bradley LA. Association between 9p21 genomic markers and heart disease: a meta-analysis. JAMA 2010; 303: 648-56.
9. Avis HJ, Vissers MN, Stein EA et al. A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2007; 27: 1803-10.
10. Liddle GW, Bledsoe T, Coppage WS. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians 1963; 76: 199-213.
11. Shimkets RA, Warnock DG, Bositis CM et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 1994; 79: 407-14.
12. Harismendy O, Notani D, Song X et al. 9p21 DNA variants associated with coronary artery disease impair interferon-gamma signalling response. Nature 2011; 470: 264-8.
13. Visel A, Zhu Y, May D et al. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 2010; 464: 409-12.
14. Rosvall M, Janzon L, Berglund G, Engstrom G, Hedblad B. Incident coronary events and case fatality in relation to common carotid intima-media thickness. J Intern Med 2005; 257: 430-7.
15. Rosvall M, Janzon L, Berglund G, Engstrom G, Hedblad B. Incidence of stroke is related to carotid imt even in the absence of plaque. Atherosclerosis 2005; 179: 325-31.
16. Engstrom G, Jerntorp I, Pessah-Rasmussen H, Hedblad B, Berglund G, Janzon L. Geographic distribution of stroke incidence within an urban population: relations to socioeconomic circumstances and prevalence of cardiovascular risk factors. Stroke 2001; 32: 1098-103.
17. National Board of Health Welfare. Evaluation of Quality of Diagnosis of Acute Myocardial Infarction, Inpatient Register 1997 and 1995. Stockholm, Sweden: National board of health and welfare, 2000.
18. Sarno G, Lagerqvist B, Carlsson J et al. Initial clinical experience with an everolimus eluting platinum chromium stent (promus element) in unselected patients from the swedish coronary angiography and angioplasty registry (scaar). Int J Cardiol 2012; doi: 10.1016/j.ijcard.2011.12.057.
19. Pencina MJ, D'Agostino RB. Overall c as a measure of discrimination in survival analysis: model specific population value and confidence interval estimation. Stat Med 2004; 23: 2109-23.
20. Pencina MJ, D'Agostino RB Sr, D'Agostino RB Jr, Vasan RS. Evaluating the added predictive ability of a new marker: from area under the roc curve to reclassification and beyond. Stat Med 2008; 27: 157-72; discussion 207-112.
21. Ridker PM, Buring JE, Rifai N, Cook NR. Development and validation of improved algorithms for the assessment of global cardiovascular risk in women: the reynolds risk score. JAMA 2007; 297: 611-9.
22. Schaid DJ, Sommer SS. Genotype relative risks: methods for design and analysis of candidate-gene association studies. Am J Hum Genet 1993; 53: 1114-26.
23. Paynter NP, Chasman DI, Buring JE, Shiffman D, Cook NR, Ridker PM. Cardiovascular disease risk prediction with and without knowledge of genetic variation at chromosome 9p21.3. Ann Intern Med 2009; 150: 65-72.
24. Schunkert H, Konig IR, Kathiresan S et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011; 43: 333-8.
25. Pandya A, Weinstein MC, Gaziano TA. A comparative assessment of non-laboratory-based versus commonly used laboratory-based cardiovascular disease risk scores in the nhanes iii population. PLoS ONE 2011; 6: e20416.