Gene: HNF1A

Alternate names for this Gene: HNF-1A|HNF1|HNF4A|IDDM20|LFB1|MODY3|TCF-1|TCF1

Gene Summary: The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: HNF1 homeobox A

Type of Gene: protein-coding

rs1169286 in HNF1A gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11065385 in HNF1A gene and C-reactive protein measurement PMID 21647738 2012 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

PMID 23844046 2013 Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 23505291 2013 Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 19567438 2009 Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.

PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

PMID 21300955 2011 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.

PMID 22939635 2012 Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.

PMID 24763700 2014 New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.

PMID 22788528 2013 Genetic associations with C-reactive protein level and white blood cell count in the KARE study.

PMID 18439548 2008 Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

PMID 21196492 2011 Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.

rs2259816 in HNF1A gene and Coronary heart disease PMID 19198612 2009 New susceptibility locus for coronary artery disease on chromosome 3q22.3.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs1169299 in HNF1A gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

rs1169299 in HNF1A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2393791 in HNF1A gene and Gamma glutamyl transferase measurement PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

rs766982432 in HNF1A gene and Glycosuria PMID 30476138 2019 Sequence variants associating with urinary biomarkers.

rs1057524908 in HNF1A gene and Hyperglycemia PMID 11463573 2001 Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

PMID 11058894 2000 Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 18003757 2008 The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

PMID 9032114 1997 Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

PMID 15726414 2005 Homeodomain revisited: a lesson from disease-causing mutations.

PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

PMID 9313763 1997 Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.

PMID 10585442 1999 Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 12453976 2002 Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.

PMID 9439666 1997 A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.

PMID 11272211 2001 beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

PMID 25414397 2014 Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

PMID 9075818 1997 Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.

rs1183910 in HNF1A gene and Low density lipoprotein cholesterol measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs1172328722 in HNF1A gene and MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) PMID 12488961 2002 High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.

PMID 10078571 1999 Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

PMID 9097962 1997 Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).

PMID 20132997 2010 Three novel mutations in MODY and its phenotype in three different Czech families.

PMID 10754480 2000 Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

PMID 12453976 2002 Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.

PMID 25414397 2014 Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

PMID 9439666 1997 A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.

PMID 11272211 2001 beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

PMID 18003757 2008 The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

PMID 9075818 1997 Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.

rs1057524908 in HNF1A gene and Monogenic diabetes PMID 11058894 2000 Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 11463573 2001 Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

PMID 18003757 2008 The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

PMID 10585442 1999 Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.

PMID 9313763 1997 Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.

PMID 15726414 2005 Homeodomain revisited: a lesson from disease-causing mutations.

PMID 9032114 1997 Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

rs1169296 in HNF1A gene and Pancreatic carcinoma PMID 30541042 2019 Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.

PMID 26098869 2015 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.

rs1183910 in HNF1A gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1169299 in HNF1A gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1169299 in HNF1A gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2393791 in HNF1A gene and Serum gamma-glutamyl transferase measurement PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

rs1169302 in HNF1A gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs11065381 in HNF1A gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2393791 in HNF1A gene and White Blood Cell Count procedure PMID 22788528 2013 Genetic associations with C-reactive protein level and white blood cell count in the KARE study.