rs7528419

This is a regulatory region variant variant in the CELSR2 gene.

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GWAS Catalog Trait Associations (112)

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

low density lipoprotein cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.12

p 9.9e-324

N 578,955

Major Consortium StudyLarge GWAS

multi-ancestry

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)

Allele A

OR 5.98

p 1.0e-98

N 127,326

Large GWAS

multi-ancestry

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele A

OR 0.18

p 3.0e-201

N 94,674

Large GWAS

multi-ancestry

Petty LE et al. “Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.” Nature Communications 16(1):3438 (2025)

Allele A

OR 0.19

p 3.0e-137

N 60,405

Large GWAS

Hispanic or Latin American

Oni-Orisan A et al. “The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change.” Npj Genomic Medicine 5:1 (2020)

Allele A

OR —

β 0.035

p 2.0e-54

N 34,874

Large GWAS

multi-ancestry

Sohail M et al. “Mexican Biobank advances population and medical genomics of diverse ancestries.” Nature 622(7984):775-783 (2023)

Allele A

OR 0.19

p 3.0e-15

N 4,453

Large GWAS

Hispanic or Latin American

total cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.13

p 9.9e-324

N 397,478

Major Consortium StudyLarge GWAS

European

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)

Allele A

OR 0.14

p 1.0e-300

N 297,626

Major Consortium StudyLarge GWAS

multi-ancestry

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele A

OR 0.14

p 5.0e-134

N 94,674

Large GWAS

multi-ancestry

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 0.10

p 7.0e-17

N 14,296

Large GWAS

European

Sohail M et al. “Mexican Biobank advances population and medical genomics of diverse ancestries.” Nature 622(7984):775-783 (2023)

Allele A

OR 0.14

p 1.0e-8

N 4,484

Large GWAS

Hispanic or Latin American

Below JE et al. “Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.” Scientific Reports 6:19429 (2016)

Allele A

OR 0.17

p 9.0e-27

N 4,383

Meta-analysis

multi-ancestry

low density lipoprotein cholesterol measurement, physical activity

Kilpeläinen TO et al. “Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.” Nature Communications 10(1):376 (2019)

Allele A

OR —

p 2.0e-309

N 109,688

Large GWAS

multi-ancestry

hyperlipidemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.22

p 8.0e-300

N 426,603

Major Consortium StudyLarge GWAS

European

metabolic disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.22

p 6.0e-294

N 426,570

Major Consortium StudyLarge GWAS

European

low density lipoprotein cholesterol measurement, alcohol drinking

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)

Allele G

OR —

p 2.0e-273

N 127,326

Large GWAS

multi-ancestry

drug use measurement, Hypercholesterolemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.21

p 1.0e-248

N 404,034

Major Consortium StudyLarge GWAS

multi-ancestry

low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.15

p 3.0e-213

N 136,016

Large GWAS

multi-ancestry

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.13

p 1.0e-172

N 136,016

Large GWAS

multi-ancestry

cholesterol in medium VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele G

OR 0.06

p 1.0e-148

N 450,015

Large GWAS

multi-ancestry

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Research that mentions this SNP (1)

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The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol

AssociationN=3,974Nilesh J. Samani et al.(2008)· Journal of Molecular Medicine

This genome-wide association study investigated whether seven CAD-associated loci affect coronary artery disease risk through traditional cardiovascular risk factors. The study found that rs599839, located near PSRC1 and CELSR2 on chromosome 1p13.3, showed a strong association with serum cholesterol levels, with the risk allele A associated with 0.17 mmol/l higher total cholesterol per allele copy (P = 3.84 × 10⁻⁶) and 0.19 mmol/l higher LDL cholesterol (P = 8.56 × 10⁻⁵). This association was replicated in independent cohorts and the findings support further investigation of these genes in cholesterol metabolism and coronary risk.

Traits studied:Blood pressureBlood urateBody mass indexCoronary artery diseaseCreatinine clearanceGlucoseHDL cholesterolLDL cholesterolMyocardial infarctionTotal cholesterolWaist-hip ratio

PubMed DOI Metascience Observatory

About CELSR2

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

rs7528419

GWAS Catalog Trait Associations (112)

low density lipoprotein cholesterol measurement

total cholesterol measurement

low density lipoprotein cholesterol measurement, physical activity

hyperlipidemia

metabolic disease

low density lipoprotein cholesterol measurement, alcohol drinking

drug use measurement, Hypercholesterolemia

low density lipoprotein cholesterol measurement, phospholipids:total lipids ratio

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

cholesterol in medium VLDL measurement

Research that mentions this SNP (1)

About CELSR2

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