Impact of genetic variation of PPARγ in humans
A Meirhaeghe, P Amouyel - Molecular genetics and metabolism, 2004 - Elsevier
Peroxisome proliferator-activated receptor γ (PPARγ) is a transcription factor with a key role
in adipocyte differentiation. Since 1997, studies of rare mutations and common
polymorphisms of the PPARγ gene have enabled us to expand our knowledge of the role of
this transcription factor in humans. Rare monogenic mutations in PPARγ have a limited
impact on the health of the population due to their low frequency but are associated with
severe phenotypes such as severe insulin resistance, partial lipodystrophy, type 2 diabetes …
in adipocyte differentiation. Since 1997, studies of rare mutations and common
polymorphisms of the PPARγ gene have enabled us to expand our knowledge of the role of
this transcription factor in humans. Rare monogenic mutations in PPARγ have a limited
impact on the health of the population due to their low frequency but are associated with
severe phenotypes such as severe insulin resistance, partial lipodystrophy, type 2 diabetes …