Rs599839

From SNPedia

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]

[PMID 18262040] 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]

rs646776 is a surrogate for rs599839, with linkage r²=0.88. [PMID 18979498] rs599839, rs4970834 and rs17228212 associated with non-HDL

GWAS
SNP	rs599839
PubMedID	[PMID 18179892]
Condition	LDL cholesterol
Gene	CELSR2,PSRC1
Risk Allele	G
pValue	1.00E-007
OR	0.95
95% CI	0.93-0.97

[PMID 19380133] Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis

GWAS snp
PMID	[PMID 18193043]
Trait	LDL cholesterol
Title	Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Risk Allele	A
P-val	6.0000000000000003E-33
Odds Ratio	5.48 [NR] mg/dl higher

[PMID 19164808] Large scale association analysis of novel genetic loci for coronary artery disease

[PMID 19487539] Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

[PMID 19837406] 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 19955471] 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