Gene Polymorphisms and Signaling Defects

摘要: Understanding heritability of cardiovascular risk is a key issue in preventive medicine and particular importance for the development cost-efficient strategies to preserve health. Recent progress genotyping technologies enabled detailed insight into human genetic variability. Linkage analysis genome-wide association screens have complemented candidate gene studies uncover large array variations associated with pathologies. For majority identified polymorphisms, clinical impact as yet unclear available information still limited value prediction. However, discoveries greatly improved our understanding pathophysiological principles. The identification novel molecular players target structures contributed significantly therapeutic progress. In this chapter we aim present an overview on polymorphisms genes proven or at least convincingly suggested causal relation secondary factors and/or phenotypes. Special attention will be paid functional consequences variations. Many ­polymorphisms that are causally involved pathogenesis dysfunction impair cellular signaling processes may turn affect regulatory networks. Unraveling mechanisms link variability pathological phenotypes rather early stage. We here selection these discuss their significance.