HNF4A genetic variants: Role in diabetes

Latisha Love-Gregory, M. Alan Permutt

Research output: Contribution to journalReview articlepeer-review

26 Scopus citations


PURPOSE OF REVIEW: Variants in the hepatocyte nuclear factor 4α (HNF4A) gene play a role in the development of diabetes mellitus. Although genetic variation in and around HNF4A regulatory regions has received considerable attention, the significance of these variants in the common type 2 diabetes varies in the literature. This review will provide a general overview of recent genetic studies involving the evaluation of HNF4A as a contributor to the risk and pathophysiology of diabetes mellitus and related risk factors. RECENT FINDINGS: These studies report newly identified variants, evaluate previously reported polymorphisms that were associated with type 2 diabetes in several distinct populations with maturity-onset diabetes of the young, type 2 diabetes, gestational diabetes, and diabetes related risk factors, and propose a role for HNF4A in insulin secretion via the potassium ATP channel. SUMMARY: HNF4A variants identified so far appear to modestly contribute to predisposition for type 2 diabetes. Continued identification and especially functional characterization of variants, however, will be critical in future studies to enhance our understanding of the metabolic impact of this gene.

Original languageEnglish
Pages (from-to)397-402
Number of pages6
JournalCurrent opinion in clinical nutrition and metabolic care
Issue number4
StatePublished - Jul 2007


  • Diabetes mellitus
  • HNF4A
  • SNPs
  • Single nucleotide polymorphisms


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