{{Rsnum
|rsid=599839
|Gene=PSRC1
|Chromosome=1
|position=109279544
|Orientation=plus
|GMAF=0.3127
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PSRC1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 53.1 | 38.1 | 8.8
| HCB | 90.5 | 9.5 | 0.0
| JPT | 84.1 | 14.2 | 1.8
| YRI | 4.1 | 28.1 | 67.8
| ASW | 8.8 | 33.3 | 57.9
| CHB | 90.5 | 9.5 | 0.0
| CHD | 90.8 | 8.3 | 0.9
| GIH | 56.4 | 33.7 | 9.9
| LWK | 2.7 | 33.6 | 63.6
| MEX | 63.8 | 31.0 | 5.2
| MKK | 14.1 | 50.0 | 35.9
| TSI | 62.7 | 30.4 | 6.9
| HapMapRevision=28
}}[[rs599839]] is a SNP found to be associated with [[heart disease]] by the German MI (Myocardial infarction) Family Study group, over several populations. The odds ratio for the (common) risk allele, [[rs599839]](A), is 1.29 (CI: 1.18-1.40, adjusted p=0.0006).{{PMID|17634449|OA=1
}}

{{PMID|18262040|OA=1
}} [[rs599839]] and [[rs4970834]] explain about 1% of the variation in circulating LDL-cholesterol levels. "When we look at this particular genetic variance, of all the cholesterol variation among the population, 1% of it can be attributed to this particular locus," said Sandhu. "This is equivalent to more established genes for LDL regulation, particularly APOE." 

Another study also reports an association between [[rs599839]](A) and higher LDL levels, in over 4,000 Caucasian Europeans. In one study, the (A) allele is associated with a 6% increase in nonfasting serum LDL, and in another, with a 25% increase in fasting serum LDL.{{PMID|18179892|OA=1
}}

[[rs646776]] is a surrogate for [[rs599839]], with linkage r<sup>2</sup>=0.88.
{{PMID|18979498|OA=1
}} [[rs599839]], [[rs4970834]] and [[rs17228212]] associated with non-HDL 

{{GWAS Summary
|SNP=rs599839
|PubMedID=18179892
|Condition=LDL cholesterol
|Gene=CELSR2,PSRC1
|Risk Allele=G
|pValue=1.00E-007
|OR=0.95
|95CI=0.93-0.97
|OA=1
}}
{{PMID Auto
|PMID=19380133
|Title=Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis
}}

{{PMID Auto GWAS
|PMID=18193043
|Trait=LDL cholesterol
|Title=Newly identified loci that influence lipid concentrations and risk of coronary artery disease
|RiskAllele=A
|Pval=6.0000000000000003E-33
|OR=5.48
|ORtxt=[NR] mg/dl higher
}}
{{PMID Auto
|PMID=19164808
|Title=Large scale association analysis of novel genetic loci for coronary artery disease
|OA=1
}}

{{PMID Auto
|PMID=19487539
|Title=Large scale replication analysis of loci associated with lipid concentrations in a Japanese population
}}
{{PMID Auto
|PMID=19837406
|Title=Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction The Ludwigshafen Risk and Cardiovascular Health Study
}}

{{PMID Auto
|PMID=19955471
|Title=Genetic Variants Identified in a European Genome-Wide Association Study That Were Found to Predict Incident Coronary Heart Disease in the Atherosclerosis Risk in Communities Study
|OA=1
}}

{{PharmGKB
|RSID=rs599839
|Name_s=
|Gene_s=PSRC1
|Feature=
|Evidence=PubMed ID:18179892; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia (Initial Sample Size: 1,955 hypertensive individuals; Replication Sample Size: 2,033 individuals in 519 families; 1,461 twins (1/pair selected randomly); Risk Allele: rs599839-G). This variant is associated with LDL cholesterol level.
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases; Coronary Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356703
}}

{{PMID Auto GWAS
|PMID=20442857
|Trait=Lipoprotein-associated phospholipase A2 activity and mass
|Title=Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study
|RiskAllele=G
|Pval=3E-15
|OR=5.50
|ORtxt=[NR] nmol/ml/min decrease
|OA=1
}}
{{PMID Auto
|PMID=20370913
|Title=Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data
|OA=1
}}
{{PMID Auto
|PMID=20694560
|Title=Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans
}}

{{PharmGKB
|RSID=rs599839
|Name_s=
|Gene_s=PSRC1
|Feature=
|Evidence=PubMed ID:18193043; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Newly identified loci that influence lipid concentrations and risk of coronary artery disease (Initial Sample Size: 8,589 individuals; Replication Sample Size: 7,440-10,783 individuals; Risk Allele: rs599839-A). This variant is associated with LDL cholesterol levels.
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases; Coronary Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356713
}}

{{PharmGKB
|RSID=rs599839
|Name_s=
|Gene_s=PSRC1
|Feature=
|Evidence=PubMed ID:18262040; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: LDL-cholesterol concentrations: a genome-wide association study (Initial Sample Size: 11,685 individuals; Replication Sample Size: 5,036 individuals; Risk Allele: rs599839-G).This variant is associated with LDL level.
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases; Coronary Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356740
}}

{{PMID Auto
|PMID=21463265
|Title=Association of SNP rs17465637 on Chromosome 1q41 and rs599839 on 1p13.3 with Myocardial Infarction in an American Caucasian Population
|OA=1
}}

{{PMID Auto GWAS
|PMID=21378990
|Trait=None
|Title=Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
|RiskAllele=A
|Pval=3E-10
|OR=1.1100
|ORtxt=[1.08-1.15]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21909109
|Trait=None
|Title=Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
|RiskAllele=G
|Pval=2E-19
|OR=5.2254
|ORtxt=[4.09-6.37] mg/dL decrease
}}

{{PMID Auto
|PMID=22537824
|Title=Smoking interacts with HLA-DRB1 shared epitope in the development of ACPA-positive rheumatoid arthritis: results from the Malaysian Epidemiological Investigation of Rheumatoid Arthritis (MyEIRA).
|OA=1
}}

{{PMID Auto
|PMID=18193044
|Title=Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
|OA=1
}}

{{PMID Auto
|PMID=18462017
|Title=Mapping the genetic architecture of gene expression in human liver.
|OA=1
}}

{{PMID Auto
|PMID=18649068
|Title=The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol.
}}

{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=19065533
|Title=[Association of single nucleotide polymorphism rs599839 on chromosome 1p13.3 with premature coronary heart disease in a Chinese Han population].
}}

{{PMID Auto
|PMID=19161620
|Title=An open access database of genome-wide association results.
|OA=1
}}

{{PMID Auto
|PMID=19656773
|Title=A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
|OA=1
}}

{{PMID Auto
|PMID=19660754
|Title=Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease.
}}

{{PMID Auto
|PMID=19679263
|Title=Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.
|OA=1
}}

{{PMID Auto
|PMID=19750184
|Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
|OA=1
}}

{{PMID Auto
|PMID=19802338
|Title=Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
|OA=1
}}

{{PMID Auto
|PMID=19913121
|Title=Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
|OA=1
}}

{{PMID Auto
|PMID=19924713
|Title=Use of longitudinal data in genetic studies in the genome-wide association studies era: summary of Group 14.
|OA=1
}}

{{PMID Auto
|PMID=19951432
|Title=Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
|OA=1
}}

{{PMID Auto
|PMID=20017982
|Title=Genome-wide association analysis of cardiovascular-related quantitative traits in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20017983
|Title=Evaluation of population impact of candidate polymorphisms for coronary heart disease in the Framingham Heart Study Offspring Cohort.
|OA=1
}}

{{PMID Auto
|PMID=20018038
|Title=Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20098575
|Title=Genetics and cardiovascular disease: Design and development of a DNA biobank.
|OA=1
}}

{{PMID Auto
|PMID=21804106
|Title=Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.
|OA=1
}}

{{PMID Auto
|PMID=21984477
|Title=Genomic risk variants at 1p13.3, 1q41, and 3q22.3 are associated with subsequent cardiovascular outcomes in healthy controls and in established coronary artery disease.
}}

{{PMID Auto
|PMID=22380622
|Title=The lp13.3 genomic region -rs599839- is associated with endothelial dysfunction in patients with rheumatoid arthritis.
|OA=1
}}

{{PMID Auto
|PMID=22962622
|Title=Early Vascular Alterations in SLE and RA Patients—A Step towards Understanding the Associated Cardiovascular Risk
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs599839
|overall_frequency_n=82
|overall_frequency_d=126
|overall_frequency=0.650794
|n_genomes=40
|n_genomes_annotated=0
|n_haplomes=67
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23364394
|Title=A genome-wide association study of a coronary artery disease risk variant
}}

{{PMID Auto
|PMID=23535823
|Title=A sequence variant associated with Sortilin-1 (SORT1) on 1p13.3 is independently associated with Abdominal Aortic Aneurysm
}}

{{PMID Auto
|PMID=24622110
|Title=Multi-Ancestral Analysis of Inflammation-Related Genetic Variants and C-Reactive Protein in the Population Architecture using Genomics and Epidemiology (PAGE) Study
}}

{{PMID Auto
|PMID=23404648
|Title=An association study between genetic polymorphisms related to lipoprotein-associated phospholipase A(2) and coronary heart disease.
|OA=1
}}

{{PMID Auto GWAS
  |PMID=24262325
  |Trait=Coronary artery disease or ischemic stroke
  |Title=Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
  |RiskAllele=
  |Pval=1E-8
  |OR=NR
  |ORtxt=NR
  }}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}