ea0059p154 | Obesity & metabolism | SFEBES2018
Melvin Audrey
, Lam Brian
, Langenberg Claudia
, Agostini Maura
, Schoenmakers Erik
, Luan Jian'an
, Rainbow Kara
, Yeo Giles S
, Wareham Nick
, Savage David B
, Chatterjee Krishna
, O'Rahilly Stephen
The study of humans carrying dominant negative mutations in PPAR gamma has contributed significantly to our understanding of its role in human physiology. To date, comparable studies of PPAR alpha have not been reported. Using a pooled approach, we undertook exon sequencing of PPARA in 11,848 adult participants of the Fenland study, a population-based cohort study with detailed metabolic phenotyping. Twenty-nine PPARA missense variants were detected (allelic ...