rs2228671

This is a synonymous variant in the LDLR gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (4)

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

total cholesterol measurement

Aulchenko YS et al. “Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.” Nature Genetics 41(1):47-55 (2009)
Allele G
OR 0.16
p 9.0e-24
N 22,562
Large GWAS
European

low density lipoprotein cholesterol measurement

Aulchenko YS et al. “Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.” Nature Genetics 41(1):47-55 (2009)
Allele G
OR 0.14
p 4.0e-14
N 17,797
Large GWAS
European

free cholesterol measurement, intermediate density lipoprotein measurement

Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)
Allele T
OR 0.18
p 6.0e-13
N 7,142
Large GWAS
European
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ClinVar annotation

Benign★★★☆
34 submitters42 publications

Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, familial, 1; Smith-Lemli-Opitz syndrome (SLOS); not specified

View on ClinVar →
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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 LDLR

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]

View all LDLR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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