rs12721025

This is a regulatory region variant variant in the APOA1 gene.

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GWAS Catalog Trait Associations (1)

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

infantile hypertrophic pyloric stenosis

Bjarke Feenstra et al. “Plasma Lipids, Genetic Variants Near<i>APOA1</i>, and the Risk of Infantile Hypertrophic Pyloric Stenosis” Jama (2013)
Allele A
OR 1.59
p 2.0e-10
N 3,372
Large GWAS
multi-ancestry
Fadista J et al. “Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.” Human Molecular Genetics 28(2):332-340 (2019)
Allele A
OR 1.45
p 1.0e-9
N 5,833
Meta-analysis
multi-ancestry
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Research that mentions this SNP (1)

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Plasma Lipids, Genetic Variants NearAPOA1, and the Risk of Infantile Hypertrophic Pyloric Stenosis
AssociationN=7,350Bjarke Feenstra et al.(2013)· JAMA

Genome-wide association study identifies a novel genomewide significant locus for infantile hypertrophic pyloric stenosis (IHPS) on chromosome 11q23.3 near APOA1 (rs12721025, OR=1.59, P=1.9×10−10) and confirms three previously reported loci. A functional analysis reveals an inverse relationship between neonatal plasma cholesterol levels and IHPS risk (OR=0.77 per 10 mg/dL increase, P=0.005), suggesting that low lipid levels in newborns may be a risk factor for this surgical condition.

Traits studied:HDL cholesterolInfantile Hypertrophic Pyloric Stenosis (IHPS)LDL cholesterolPlasma cholesterol levelsTriglycerides
PubMedDOIMetascience Observatory

About APOA1

This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]

View all APOA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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