A role for coding functional variants in HNF4A in type 2 diabetes susceptibility
Research output: Contribution to journal › Journal article › Research › peer-review
Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4a (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis.
Original language | English |
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Journal | Diabetologia |
Volume | 54 |
Issue number | 1 |
Pages (from-to) | 111-9 |
Number of pages | 9 |
ISSN | 0012-186X |
DOIs | |
Publication status | Published - Jan 2011 |
- Adult, Aged, Diabetes Mellitus, Type 2, Female, Genetic Predisposition to Disease, Genotype, Hepatocyte Nuclear Factor 4, Humans, Male, Middle Aged, Mutation
Research areas
ID: 45583366