A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry

Journal of Human Genetics

Volumn 56, Issue 3, 2011, Pages 224-229

  Kral, Brian G ^a   Mathias, Rasika A ^a   Suktitipat, Bhoom ^b   Ruczinski, Ingo ^b   Vaidya, Dhananjay ^a   Yanek, Lisa R ^a   Quyyumi, Arshed A ^c   Patel, Riyaz S ^c   Zafari, A Maziar ^c,d   Vaccarino, Viola ^c,e   Hauser, Elizabeth R ^f   Kraus, William E ^f   Becker, Lewis C ^a   Becker, Diane M ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ATLANTA VA MEDICAL CENTER   (United States)

^e EMORY UNIVERSITY   (United States)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

9p21; African American; CDKN2B; coronary artery disease; genetics

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2B; GLUCOSE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; AFRICAN AMERICAN; ALLELE; ARTICLE; BODY MASS; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 9P; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FEMALE; FOLLOW UP; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; HUMAN; MAJOR CLINICAL STUDY; MALE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SYSTOLIC BLOOD PRESSURE; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; AFRICAN AMERICANS; CHROMOSOMES, HUMAN, PAIR 9; CORONARY ARTERY DISEASE; CYCLIN-DEPENDENT KINASE INHIBITOR P15; FEMALE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79953225189     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.171     Document Type: Article

References (36)

1. Ferdinand, K. C. Coronary artery disease in minority racial and ethnic groups in the United States. Am. J. Cardiol. 97, 12A-19A (2006). (Pubitemid 43139715)
2. Carnethon, M. R., Lynch, E. B., Dyer, A. R., Lloyd-Jones, D. M., Wang, R., Garside, D. B. et al. Comparison of risk factors for cardiovascular mortality in black and white adults. Arch. Intern. Med. 166, 1196-1202 (2006). (Pubitemid 43877628)
3. Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B. et al. For WTCCC and the cardiogenics consortium. Genomewide association analysis of coronary artery disease. N. Engl. J. Med. 357, 443-453 (2007). (Pubitemid 47204873)
4. McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R. et al. A common allele on chromosome 9 associated with coronary heart disease. Science 316, 1488-1491 (2007). (Pubitemid 46906617)
5. Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonas-dottir, A. et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science316, 1491-1493 (2007). (Pubitemid 46906618)
6. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3000 shared controls. Nature 47, 661-678 (2007).
7. Kathiresan, S., Voight, B. F., Purcell, S., Musunuru, K., Ardissino, D., Mannucci, P. M. et al. Genome-wide association of early-onset myocardial infarction with single nucleo-tide polymorphisms and copy number variants. Nat Genet. 41, 334-341 (2009).
8. Zhang, Q., Wang, X. F., Cheng, S. S., Wan, X. H., Cao, F. F., Li, L. et al. Three SNPs on chromosome 9p21 confer increased risk of myocardial infarction in Chinese subjects. Atherosclerosis207, 26-28 (2009).
9. Ding, H., Xu, Y., Wang, X., Wang, Q., Zhang, L., Tu, Y. et al. 9p21 is a shared susceptibility locus strongly for coronary artery disease and weakly for ischemic stroke in Chinese Han population. Circ. Cardiovasc. Genet. 2, 338-346 (2009).
10. Shen, G. Q., Rao, S., Martinelli, N., Li, L., Olivieri, O., Corrocher, R. et al. Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population. J. Hum. Genet. 53, 144-150 (2008).
11. Broadbent, H. M., Peden, J. F., Lorkowski, S., Goel, A., Ongen, H., Green, F. et al. For the PROCARDIS consortium. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p21. Hum. Mol. Genet. 17, 806-814 (2008). (Pubitemid 351359697)
12. Shen, G. Q., Li, L., Rao, S., Abdullah, K. G., Ban, J. M., Lee, B. S. et al. Four SNPs on chromosome 9p21 in a South Korean population implicate a genetic locusthatconfers high cross-race risk for development of coronary artery disease. Arterioscler. Thromb. Vasc. Biol. 28, 360-365 (2008). (Pubitemid 351161212)
13. Hinohara, K., Nakajima, T., Takahashi, M., Hohda, S., Sasaoka, T., Nakahara, K. et al. Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations. J. Hum. Genet. 53, 357-359 (2008).
14. Hiura, Y., Fukushima, Y., Yuno, M., Sawamura, H., Kokubo, Y., Okamura, T. et al. Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population. Circ. J. 72, 1213-1217 (2008).
15. Assimes, T. L., Knowles, J. W., Basu, A., Iribarren, C., Southwick, A., Tang, H. et al. Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. Hum. Mol. Genet. 17, 2320-2328 (2008).
16. Palomaki, G. E., Melillo, S. & Bradley, L. A. Association between 9p21 genomic markers and heart disease: a meta-analysis. JAMA 303, 648-656 (2010).
17. Kim, W. Y & Sharpless, N. E. The regulation of INK4/ARF in cancer and aging. Cell 127, 265-275 (2006). (Pubitemid 44572384)
18. Jarinova, O., Stewart, A. F., Roberts, R., Wells, G., Lau, P., Naing, T. et al. Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus. Arterioscler. Thromb. Vasc. Biol. 29, 1671-1677 (2009).
19. Nora, J. J., Lortscher, R. H., Spangler, R. D., Nora, A. H. & Kimberling, W. J. Genetic\epidemiologic study of early-onset ischemic heart disease. Circulation 61, 503-508 (1980). (Pubitemid 10179693)
20. Williams, R. R. Understanding genetic and environmental risk factors in susceptible persons. West. J. Med. 141, 799-806 (1984). (Pubitemid 15191635)
21. Deutscher, S., Ostrander, L. D. & Epstein, F. H. Familial factors in premature coronary heart disease\a preliminary report from the Tecumseh Community Health Study. Am. J. Epidemiol. 91, 233-237 (1970).
22. Rissanen, A. M. Familial occurrence of coronary heart disease: effect of age at diagnosis. Am. J. Cardiol. 44, 60-66 (1979). (Pubitemid 9216893)
23. Becker, D. M., Yook, R. M., Moy, T. F., Blumenthal, R. S. & Becker, L. C. Markedlyhigh prevalence of coronary risk factors in apparently healthy African-American and white siblings of persons with premature coronary heart disease. Am. J. Cardiol. 82, 1046-1051 (1998). (Pubitemid 28507085)
24. Blumenthal, R. S., Becker, D. M., Yanek, L. R., Moy, T. F., Michos, E. D., Fishman, E. K. et al. Comparison of coronary calcium and stress myocardial perfusion imaging in apparently healthy siblings of individuals with premature coronary artery disease. Am. J. Cardiol. 97, 328-333 (2006). (Pubitemid 43133044)
25. Vaidya, D., Yanek, L. R., Moy, T. F., Pearson, T. A., Becker, L. C. & Becker, D. M. Incidence of coronary artery disease in siblings of patients with premature coronary artery disease: 10 years of follow-up. Am. J. Cardiol. 100, 1410-1415 (2007). (Pubitemid 47576019)
26. Blumenthal, R. S., Becker, D. M., Moy, T. F., Coresh, J., Wilder, L. B. & Becker, L. C. Exercisethallium tomography predicts future clinically manifestcoronary heartdisease in a high-risk asymptomatic population. Circulation 93, 915-923 (1996). (Pubitemid 26074828)
27. Wilson, P. W., D'Agostino, R. B., Levy, D., Belanger, A. M., Silbershatz, H. & Kannel, W. B. Prediction of coronary heart disease using risk factor categories. Circulation 97, 1837-1847 (1998). (Pubitemid 28213628)
28. Smith, L. R., Harrell, F. E. Jr, Rankin, J. S., Califf, R. M., Pryor, D. B., Muhlbaier, L. H. et al. Determinants of early versus late cardiac death in patients undergoing coronary artery bypass graft surgery. Circulation84 (5: Suppl), III245-III253 (1991).
29. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D. et al. PLINK: a tool setfor whole-genomeassociation and population-based linkageanalyses. Am. J. Hum. Genet. 81, 559-575 (2007).
30. Zeger, S. L. & Liang, K. Y Longitudinal data analysis for discrete and continuous outcomes. Biometrics42, 121-130 (1986).
31. Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A. & Reich, D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 38, 904-909 (2006). (Pubitemid 44141658)
32. Barrett, J. C., Fry, B., Maller, J. & Daly, M. J. Haploview: analysisandvisualization of LD and haplotype maps. Bioinformatics 21, 263-265 (2005).
33. Kamb, A., Gruis, N. A., Weaver-Feldhaus, J., Liu, Q., Harshman, K., Tavtigian, S. V. et al. Acell cycle regulator potentially involved in genesisof manytumortypes. Science 264, 436-440 (1994).
34. Pomerantz, J., Schreiber-Agus, N., Liegeois, N. J., Silverman, A., Alland, L., Chin, L. et al. The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell92, 713-723 (1998). (Pubitemid 28155311)
35. Hannon, G. J. & Beach, D. p15INK4B is a potential effector of TGF-beta-induced cell cyclearrest. Nature 371, 257-261 (1994).
36. Pasmant, E., Laurendeau, I., Heron, D., Vidaud, M., Vidaud, D. & Bieche, I. Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. Cancer Res. 67, 3963-3969 (2007). (Pubitemid 46762186)