Sortilin 1
SORT1geneHepatic lipid-sorter regulating LDL metabolism and ApoB lipoprotein retention, driving atherothrombotic MI risk.
Pathway placement
Cascade stepLipid retention & oxidation
Confidencehigh
RationaleLDL-cholesterol regulation; ApoB lipoprotein metabolism; atherosclerosis initiation.
Also acts inVascular inflammation
Druggability
DruggableYes
Known drugs / candidates0
Small-molecule tractableYes
Antibody tractableYes
EnsemblENSG00000134243
Assay & specimen
Class-level default (no specific cleared assay)— generic method inferred from analyte class; confirm against a specific product insert before use.
Specimen
Whole blood — gene is not a circulating analyte; measure protein product or genotype
Collection tube
K2-EDTA whole blood (lavender-top)
Method / principle
SNP genotyping / sequencing; or immunoassay of encoded protein
Reagent / substrate
Allele-specific primers/probes (TaqMan) or NGS panel; or antibody for protein
Platform
qPCR / NGS / array
Turnaround · availability
Send-out · Genotyping widely available; protein assay variable
Human genetic evidence
0.593
Open Targets association (myocardial_infarction)
Literature evidence(7)
- Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance.PloS one · 2022 · PMID 35192625 · doi
- In silico genome-wide gene-based association analysis reveals new genes predisposing to coronary artery disease.Clinical genetics · 2021 · PMID 34687547 · doi
- Genome-wide association studies of late-onset cardiovascular disease.Journal of molecular and cellular cardiology · 2015 · PMID 25870159 · doi
- A genome-wide association study of a coronary artery disease risk variant.Journal of human genetics · 2013 · PMID 23364394 · doi
- From genotype to phenotype in human atherosclerosis--recent findings.Current opinion in lipidology · 2013 · PMID 24005217 · doi
- Genome-wide association studies identify new targets in cardiovascular disease.Science translational medicine · 2010 · PMID 20826839 · doi
- Mapping the genetic architecture of gene expression in human liver.PLoS biology · 2008 · PMID 18462017 · doi