The role of HNF4A variants in the risk of type 2 diabetes.
Genes influence susceptibility to type 2 diabetes mellitus (T2DM), and both positional cloning and candidate gene approaches have been used to identify these genes. Linkage analysis has generated evidence for T2DM-predisposing variants on chromosome 20q in studies of Caucasians, Asians, and Africans, and fine-mapping recently identified a likely susceptibility gene, hepatocyte nuclear factor 4-alpha (HNF4A). Rare loss-of-function mutations in HNF4A cause maturity-onset diabetes of the young and now common noncoding variants have been found to be associated with T2DM.
Mohlke
Karen L
KL
Department of Genetics, University of North Carolina, Chapel Hill, NC 27599-7264, USA. mohlke@med.unc.edu
Boehnke
Michael
M
D004268:DNA-Binding Proteins / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D051557:Hepatocyte Nuclear Factor 4; D006801:Humans; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D018570:Risk Assessment; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D051557:Hepatocyte Nuclear Factor 4; D010750:Phosphoproteins; D014157:Transcription Factors