Gene: LRP1

Alternate names for this Gene: A2MR|APOER|APR|CD91|IGFBP-3R|IGFBP3R|IGFBP3R1|KPA|LRP|LRP1A|TGFBR5

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: LDL receptor related protein 1

Type of Gene: protein-coding

rs4759277 in LRP1 gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs1385526 in LRP1 gene and Aortic Aneurysm, Abdominal PMID 27899403 2017 Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

PMID 22055160 2011 No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease, blood pressure, diabetes, or hyperlipidaemia, suggesting that this locus is specific to AAA.

rs715948 in LRP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11172114 in LRP1 gene and Body mass index PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs483353013 in LRP1 gene and Burnett Schwartz Berberian syndrome PMID 26142438 2015 Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.

rs4759277 in LRP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and Colorectal Carcinoma PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and Colorectal Neoplasms PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs11172113 in LRP1 gene and Common Migraine PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

rs11172113 in LRP1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs11172113 in LRP1 gene and Headache PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).

rs34614287 in LRP1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4759277 in LRP1 gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs4759277 in LRP1 gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs11172113 in LRP1 gene and Migraine Disorders PMID 22683712 2012 Genome-wide association analysis identifies susceptibility loci for migraine without aura.

PMID 21666692 2011 In a population-based genome-wide analysis including 5,122 migraineurs and 18,108 non-migraineurs, rs2651899 (1p36.32, PRDM16), rs10166942 (2q37.1, TRPM8) and rs11172113 (12q13.3, LRP1) were among the top seven associations (P < 5 × 10(-6)) with migraine.

PMID 23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

rs4759277 in LRP1 gene and Moyamoya Disease PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.

rs4759277 in LRP1 gene and Moyamoya disease 1 PMID 29273593 2018 Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.

rs11172113 in LRP1 gene and Pulmonary function PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs11172113 in LRP1 gene and Pulmonary function (finding) PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs11172113 in LRP1 gene and Respiratory Function Tests PMID 21946350 2011 Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

rs34614287 in LRP1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34576916 in LRP1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs34574998 in LRP1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11172113 in LRP1 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.