Genetics of metabolic syndrome and genetic lipodystrophies

Abstract

Polycystic ovary syndrome (PCOS) affects ∼7% of reproductive-aged women and is associated with several metabolic abnormalities including insulin resistance, type 2 diabetes (DM2), and dyslipidemia [1-3]. Although the presence of interfamilial and intrafamilial variation in the phenotype of PCOS-affected individuals points to an important role for environmental influences, studies demonstrating familial aggregation of PCOS and its associated metabolic disturbances also signify a critical genetic component to this syndrome [4-6]. Since the two key long-term sequelae of PCOS are type 2 diabetes and cardiovascular disease (CVD), PCOS can be seen as a common variant of the metabolic syndrome (MetS) with insulin resistance, dyslipidemia, and obesity as salient shared features. Thus, understanding the genetics of MetS may shed light on the genetic aspects of PCOS. Similarly, a discussion of the genetic basis of certain rare monogenic disorders of lipid distribution (genetic lipodystrophies) characterized by insulin resistance, dyslipidemia, increased cardiovascular risk, and polycystic ovaries may also aid in our understanding of common PCOS. © 2009 Springer-Verlag US.