HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011847
Disease:
Diabetes 		0.020 GeneticVariation BEFREE For example, the HNF4A c.340C>T (p.Arg114Trp) (GenBank: NM_175914.4) variant associated with diabetes is <10% penetrant by the time an individual is 40 years old. 30665703 2019
dbSNP: rs137853336
rs137853336
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011847
Disease:
Diabetes 		0.020 GeneticVariation BEFREE We confirm that p.R114W is a pathogenic mutation with an odds ratio of 30.4 (95% CI 9.79-125, P = 2 × 10(-21)) for diabetes in our MODY cohort compared with control subjects. p.R114W heterozygotes did not have the increased birth weight of patients with other HNF4A mutations (3,476 g vs. 4,147 g, P = 0.0004), and fewer patients responded to sulfonylurea treatment (48% vs. 73%, P = 0.038). p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 years compared with 71% for other HNF4A mutations. 27486234 2016