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

Highlights • 9p21.3 SNP variants were tagged by a genome-wide association study (GWAS) as a hot spot associated with cardiovascular disease (CVD) and type 2 diseases. • It is not clear why this chromosome region is a vital genetic region, or by which pathways this locus might influence cardio-metabo...

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Veröffentlicht in:	Trends in endocrinology and metabolism 2015-04, Vol.26 (4), p.176-184
Hauptverfasser:	Hannou, Sarah Anissa, Wouters, Kristiaan, Paumelle, Réjane, Staels, Bart
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals ANRIL cardiovascular disease CDKN2A CDKN2B Chromosomes, Human, Pair 9 Coronary Artery Disease - genetics Coronary Artery Disease - metabolism Cyclin-Dependent Kinase Inhibitor p15 - genetics Cyclin-Dependent Kinase Inhibitor p15 - metabolism Cyclin-Dependent Kinase Inhibitor p16 - genetics Cyclin-Dependent Kinase Inhibitor p16 - metabolism Diabetes Mellitus, Type 2 - genetics Diabetes Mellitus, Type 2 - metabolism Endocrinology & Metabolism Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Genomics - methods GWAS Humans Mice Mice, Knockout Polymorphism, Single Nucleotide type 2 diabetes
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Zusammenfassung:	Highlights • 9p21.3 SNP variants were tagged by a genome-wide association study (GWAS) as a hot spot associated with cardiovascular disease (CVD) and type 2 diseases. • It is not clear why this chromosome region is a vital genetic region, or by which pathways this locus might influence cardio-metabolic susceptibility. • The function of cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) gene products may mechanistically link the 9p21.3 risk locus with CVD and type 2 diabetes (T2D). • In addition to direct vascular and immune-modulatory roles of CDKN2A/B, this locus may influence cardio-metabolic diseases by affecting metabolic functions.
ISSN:	1043-2760 1879-3061
DOI:	10.1016/j.tem.2015.01.008