Gene: HNF1A-AS1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
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
rs1169288 in
HNF1A-AS1;HNF1A gene and
Biliary calculi
PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
rs1169288 in
HNF1A-AS1;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.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Chloride measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Coronary Artery Disease
PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Low density lipoprotein cholesterol measurement
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs1169288 in
HNF1A-AS1;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.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Serum LDL cholesterol measurement
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Serum gamma-glutamyl transferase measurement
PMID 22010049 2012 Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Serum total cholesterol measurement
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs1169288 in
HNF1A-AS1;HNF1A gene and
Uric acid measurement (procedure)
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.