rs1183910

This is a upstream gene variant variant in the HNF1A gene.

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GWAS Catalog Trait Associations (13)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

C-reactive protein measurement

Dehghan A et al. “Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.” Circulation 123(7):731-8 (2011)
Allele G
OR 0.15
p 2.0e-124
N 66,185
Meta-analysisLarge GWAS
European
Kocarnik JM et al. “Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Human Molecular Genetics 27(16):2940-2953 (2018)
Allele G
OR 0.13
p 3.0e-18
N 30,503
Large GWAS
multi-ancestry
Elliott P. et al. “Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease” Jama (2009)
Allele G
OR 13.80
p 1.0e-30
N 17,967
Large GWAS
South Asian, European
Dorajoo R et al. “Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?” Plos One 8(7):e67650 (2013)
Allele G
OR —
β 0.054
p 4.0e-12
N 6,692
Large GWAS
multi-ancestry

triglycerides in medium LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 5.0e-16
N 136,016
Large GWAS
multi-ancestry

N-acetylarginine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.09
p 6.0e-16
N 14,296
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.10
p 8.0e-15
N 10,708
Large GWAS
European

phosphoglycerides measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 1.0e-14
N 136,016
Large GWAS
multi-ancestry

gamma-glutamylglutamine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.08
p 1.0e-13
N 14,296
Large GWAS
European

cholesterol:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 1.0e-12
N 136,016
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 2.0e-12
N 126,671
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Investigation of genetic risk factors for chronic adult diseases for association with preterm birth
AssociationN=1,792Nadia Falah et al.(2013)· Human Genetics

Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.

Traits studied:Cardiovascular diseaseHeight and weightHemostasis and thrombosisHypertensionInflammatory and immunological diseaseLipids and glucose metabolismMyocardial infarctionObesityPreterm birth
PubMedDOIMetascience Observatory
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Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease
AssociationN=130,857Elliott P. et al.(2009)· JAMA

Genome-wide association study identified five genetic loci influencing C-reactive protein (CRP) levels: rs6700896 in LEPR (-14.7% per allele, OR 1.06 for CHD), rs4537545 in IL6R (-10.8%, OR 0.94 for CHD), rs7553007 in CRP locus (-20.7%, OR 0.98 for CHD), rs1183910 in HNF1A (-13.6%), and rs4420638 in APOE-CI-CII (-21.8%, OR 1.16 for CHD). Mendelian randomization analysis of 28,112 CHD cases and 100,823 controls found no causal association between CRP genetic variants and coronary heart disease (OR 1.00, 95% CI 0.97-1.02), arguing against CRP having a causal role in atherosclerosis.

Traits studied:C-reactive protein levelsCoronary heart diseaseHDL cholesterolLDL cholesterolMyocardial infarctionTotal cholesterolTriglycerides
PubMedDOIMetascience Observatory

About HNF1A

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. [provided by RefSeq, Apr 2015]

View all HNF1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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