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

被引：132
作者：
Hannou, Sarah Anissa [1 ,2 ,3 ,4 ,5 ]
Wouters, Kristiaan [6 ]
Paumelle, Rejane [1 ,2 ,3 ,4 ]
Staels, Bart [1 ,2 ,3 ,4 ]
机构：
[1] Univ Lille, F-59000 Lille, France
[2] INSERM, U1011, F-59000 Lille, France
[3] European Genom Inst Diabet, FR-3508 Lille, France
[4] Inst Pasteur, F-59019 Lille, France
[5] Inst Pasteur, Ctr Immunol & Biol Parasitaire, CNRS, UMR 8199, F-59019 Lille, France
[6] Maastricht Univ, Med Ctr, Dept Internal Med, Cardiovasc Res Inst Maastricht CARIM, NL-6200 MD Maastricht, Netherlands
来源：
TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2015年 / 26卷 / 04期
关键词：
GWAS; type; 2; diabetes; cardiovascular disease; CDKN2A; CDKN2B; ANRIL; CORONARY-ARTERY-DISEASE; ADIPOSE-TISSUE MACROPHAGES; BETA-CELL PROLIFERATION; TUMOR-SUPPRESSOR; CHROMOSOME; 9P21; ATHEROSCLEROSIS DEVELOPMENT; WIDE ASSOCIATION; GENETIC-VARIANTS; PROGENITOR CELLS; RISK;
D O I：
10.1016/j.tem.2015.01.008
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：176 / 184
页数：9
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