rs5177

This variant is located in the LRP8 gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele C

OR 0.32

p 1.0e-133

N 10,708

Large GWAS

European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.00

p 2.0e-14

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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Research that mentions this SNP (1)

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Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction

AssociationN=4,873Wolfgang Lieb et al.(2008)· Journal of Molecular Medicine

This association study tested whether genetic variants in the LRP8 gene are associated with myocardial infarction (MI) and coronary artery disease (CAD) in German familial MI families and the Wellcome Trust Case Control Consortium cohort. The authors found no significant association between LRP8 SNPs and MI/CAD risk across multiple populations, including analysis of rs5177 (a proxy for the reported rs5174/R952Q variant) and 13 additional LRP8 variants with ORs ranging from 0.80-1.19.

Traits studied:Coronary artery diseaseMyocardial infarction

PubMed DOI Metascience Observatory

About LRP8

This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]