Sookoian Silvia, Pirola Carlos J
Departamento de Sustancias Vasoactivas y Cardiología Molecular, Instituto de Investigaciones A Lanari, Universidad de Buenos Aires-CONICET, Ciudad Autónoma de Buenos Aires, Argentina.
Ther Adv Cardiovasc Dis. 2007 Oct;1(1):37-47. doi: 10.1177/1753944707082702.
Although the definition of the phenotype is imprecise, cardiometabolic syndrome (CMS) includes a constellation of complex diseases such as type 2 diabetes, dislipidemias, central obesity and hypertension, proinflammatory and prothrombotic states, ovarian polycystosis and fatty liver. The genetics of each disease is complex in itself and varies in spectrum from monogenic and syndromic models of inheritance, usually rare, to the most common polygenic and multifactorial forms. In addition, human studies using the candidate-gene approach indicate that common genetic variants of several genes are associated with the development of CMS. Genome-wide scans have also provided several chromosomal regions associated with some of the components of CMS. In addition, through comparative genomics animal models can generate a map for candidate loci in humans and a promising approach is offered by bioinformatic tools for gene prioritization. Lastly, the involvement of genes whose products are already the targets for approved drugs, such as SLC6A4, PPARalpha and PPARgamma , in the development of CMS suggests new avenues for CMS pharmacological treatment.
尽管对该表型的定义并不精确，但心脏代谢综合征（CMS）包括一系列复杂疾病，如2型糖尿病、血脂异常、中心性肥胖和高血压、促炎和促血栓形成状态、多囊卵巢综合征和脂肪肝。每种疾病的遗传学本身都很复杂，其遗传谱从通常罕见的单基因和综合征遗传模式到最常见的多基因和多因素形式各不相同。此外，使用候选基因方法的人体研究表明，多个基因的常见遗传变异与CMS的发生有关。全基因组扫描也提供了几个与CMS某些组分相关的染色体区域。此外，通过比较基因组学，动物模型可以生成人类候选基因座图谱，生物信息学工具为基因优先级排序提供了一种有前景的方法。最后，其产物已成为获批药物靶点的基因（如SLC6A4、PPARα和PPARγ）参与CMS的发生，这为CMS的药物治疗提供了新途径。
