A role for coding functional variants in HNF4A in type 2 diabetes susceptibility
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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.
Originalsprog | Engelsk |
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Tidsskrift | Diabetologia |
Vol/bind | 54 |
Udgave nummer | 1 |
Sider (fra-til) | 111-9 |
Antal sider | 9 |
ISSN | 0012-186X |
DOI | |
Status | Udgivet - jan. 2011 |
ID: 45583366