Pamela J. Hicks
Tanzania
Research Article
Examination of Rare Variants in HNF4α in European Americans with Type 2 Diabetes
Author(s): Jacklyn N. Hellwege, Pamela J. Hicks, Nicholette D. Palmer, Maggie C.Y. Ng, Barry I. Freedman and Donald W. BowdenJacklyn N. Hellwege, Pamela J. Hicks, Nicholette D. Palmer, Maggie C.Y. Ng, Barry I. Freedman and Donald W. Bowden
The hepatocyte nuclear factor 4-α (HNF4 α ) gene codes for a transcription factor which is responsible for regulating gene transcription in pancreatic beta cells, in addition to its primary role in hepatic gene regulation. Mutations in this gene can lead to maturity-onset diabetes of the young (MODY), an uncommon, autosomal dominant, non-insulin dependent form of diabetes. Mutations in HNF4 α have been found in few individuals, and infrequently have they segregated completely with MODY in families. In addition, due to similarity of phenotypes, it is unclear what proportion of type 2 diabetes (T2DM) in the general population is due to MODY or HNF4 α mutations specifically. In this study, 27 documented rare and common variants were genotyped in a European American population of 1270 T2DM cases and 1017 controls from review.. View More»
