rs1800127

This variant is located in the LRP1 gene.

▶

GWAS Catalog Trait Associations (2)

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

level of calsyntenin-2 in blood serum

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.12

p 2.0e-12

N 47,745

Large GWAS

European

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele C

OR 0.02

p 5.0e-8

N 405,540

Large GWAS

European

▶

ClinVar annotation

Benign

1 submitter

LRP1-related disorder

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3

AssociationN=5,270Todd L. Edwards et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Association analysis of Alzheimer disease candidate genes in 738 families (4704 individuals) and 296 cases/566 controls detected significant haplotype effects in ACE gene (p=0.0004 family, p=0.029 case-control) and putative multilocus associations between ACE, A2M, and LRRTM3 (p<0.001 MDR-PDT). ACE ancestral haplotypes show consistent replication across independent samples with attributable risk explaining ~8-16% of LOAD cases.

Traits studied:Alzheimer's diseaseLate-onset Alzheimer's disease (LOAD)

PubMed DOI Metascience Observatory

About LRP1

This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]