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

Publication ,  Journal Article
Kral, BG; Mathias, RA; Suktitipat, B; Ruczinski, I; Vaidya, D; Yanek, LR; Quyyumi, AA; Patel, RS; Zafari, AM; Vaccarino, V; Hauser, ER ...
Published in: J Hum Genet
March 2011

A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characterize the role of genetic variants in 9p21.3 in African American individuals. Apparently healthy African American siblings (n = 548) of patients with documented CAD < 60 years of age were genotyped and followed for incident CAD for up to 17 years. Tests of association for 86 single-nucleotide polymorphisms (SNPs) across the 9p21.3 region in a generalized estimating equation logistic framework under an additive model adjusting for traditional risk factors, family, follow-up time and population stratification were performed. A single SNP within the CDKN2B gene met stringent criteria for statistical significance, including permutation-based evaluations. This variant, rs3217989, was common (minor allele (G) frequency 0.242), conveyed protection against CAD (odds ratio (OR) = 0.19, 95% confidence interval (CI): 0.07 to 0.50, P = 0.0008) and was replicated in a combined analysis of two additional case/control studies of prevalent CAD/MI in African Americans (n = 990, P = 0.024, OR = 0.779, 95% CI: 0.626-0.968). This is the first report of a CAD association signal in a population of African ancestry with a common variant within the CDKN2B gene, independent from previous findings in European and East Asian ancestry populations. The findings demonstrate a significant protective effect against incident CAD in African American siblings of persons with premature CAD, with replication in a combination of two additional African American cohorts.

Duke Scholars

Published In

J Hum Genet

DOI

EISSN

1435-232X

Publication Date

March 2011

Volume

56

Issue

3

Start / End Page

224 / 229

Location

England

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Genetics & Heredity
  • Female
  • Cyclin-Dependent Kinase Inhibitor p15
  • Coronary Artery Disease
  • Chromosomes, Human, Pair 9
  • Black or African American
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Kral, B. G., Mathias, R. A., Suktitipat, B., Ruczinski, I., Vaidya, D., Yanek, L. R., … Becker, D. M. (2011). A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry. J Hum Genet, 56(3), 224–229. https://doi.org/10.1038/jhg.2010.171
Kral, Brian G., Rasika A. Mathias, Bhoom Suktitipat, Ingo Ruczinski, Dhananjay Vaidya, Lisa R. Yanek, Arshed A. Quyyumi, et al. “A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.J Hum Genet 56, no. 3 (March 2011): 224–29. https://doi.org/10.1038/jhg.2010.171.
Kral BG, Mathias RA, Suktitipat B, Ruczinski I, Vaidya D, Yanek LR, et al. A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry. J Hum Genet. 2011 Mar;56(3):224–9.
Kral, Brian G., et al. “A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.J Hum Genet, vol. 56, no. 3, Mar. 2011, pp. 224–29. Pubmed, doi:10.1038/jhg.2010.171.
Kral BG, Mathias RA, Suktitipat B, Ruczinski I, Vaidya D, Yanek LR, Quyyumi AA, Patel RS, Zafari AM, Vaccarino V, Hauser ER, Kraus WE, Becker LC, Becker DM. A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry. J Hum Genet. 2011 Mar;56(3):224–229.
Journal cover image

Published In

J Hum Genet

DOI

EISSN

1435-232X

Publication Date

March 2011

Volume

56

Issue

3

Start / End Page

224 / 229

Location

England

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Genetics & Heredity
  • Female
  • Cyclin-Dependent Kinase Inhibitor p15
  • Coronary Artery Disease
  • Chromosomes, Human, Pair 9
  • Black or African American