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Trends Endocrinol Metab. 2015 Apr;26(4):176-84. doi: 10.1016/j.tem.2015.01.008. Epub 2015 Mar 3.

Functional genomics of the CDKN2A/B locus in cardiovascular and metabolic disease: what have we learned from GWASs?

Author information

1
University of Lille, F-59000, Lille, France; Inserm, U1011, F-59000, Lille, France; European Genomic Institute for Diabetes (EGID), FR3508, Lille, France; Institut Pasteur de Lille, F-59019, Lille, France; Centre National de la Recherche Scientifique (CNRS), UMR 8199, Lille, France.
2
Cardiovascular Research Institute Maastricht (CARIM), Department of Internal Medicine, Maastricht University Medical Center (MUMC), Maastricht, The Netherlands.
3
University of Lille, F-59000, Lille, France; Inserm, U1011, F-59000, Lille, France; European Genomic Institute for Diabetes (EGID), FR3508, Lille, France; Institut Pasteur de Lille, F-59019, Lille, France.
4
University of Lille, F-59000, Lille, France; Inserm, U1011, F-59000, Lille, France; European Genomic Institute for Diabetes (EGID), FR3508, Lille, France; Institut Pasteur de Lille, F-59019, Lille, France. Electronic address: bart.staels@pasteur-lille.fr.

Abstract

Genome-wide association studies (GWASs) provide an unprecedented opportunity to examine, on a large scale, the association of common genetic variants with complex diseases like type 2 diabetes (T2D) and cardiovascular disease (CVD), thus allowing the identification of new potential disease loci. Using this approach, numerous studies have associated SNPs on chromosome 9p21.3 situated near the cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) locus with the risk for coronary artery disease (CAD) and T2D. However, identifying the function of the nearby gene products (CDKN2A/B and ANRIL) in the pathophysiology of these conditions requires functional genomic studies. We review the current knowledge, from studies using human and mouse models, describing the function of CDKN2A/B gene products, which may mechanistically link the 9p21.3 risk locus with CVD and diabetes.

KEYWORDS:

ANRIL; CDKN2A; CDKN2B; GWAS; cardiovascular disease; type 2 diabetes

PMID:
25744911
DOI:
10.1016/j.tem.2015.01.008
[Indexed for MEDLINE]

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