rs2297660

This is a synonymous variant in the LRP8 gene — it does not change the protein's amino acid sequence.

Research that mentions this SNP (1)

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

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]

View all LRP8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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