|(A;A)||2.1||1.2x risk of coronary artery disease|
[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." rs646776 also linked.
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins found each minor allele to increase statin effectiveness by 1.3% (rs646776, β=−0.013, s.e.=0.002, P=1.05 × 10−9 and rs12740374, β=−0.013, s.e.=0.002, P=1.05 × 10−9).
SNP Risk Version Effect
- rs646776 T 1.19
- rs17465637 C 1.14
- rs1746048 C 1.17
- rs6725887 C 1.17
- rs11206510 T 1.15
- rs3184504 T 1.13
- rs2306374 C 1.15
- rs3782886 C 1.44
|95% CI||0.14-0.18) % SD lowe|
[PMID 19380133] Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis
|Trait||Myocardial infarction (early onset)|
|Title||Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants|
|Odds Ratio||1.19 [1.13-1.26]|
|Title||Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts|
|Odds Ratio||0.13 [NR] SD decrease|
|Title||Genome-wide association analysis of metabolic traits in a birth cohort from a founder population|
|Odds Ratio||0.16 [0.11-0.20] mmol/l decrease|
|Trait||Response to statin therapy|
|Title||Genome-wide association of lipid-lowering response to statins in combined study populations|
|Odds Ratio||None None|
[PMID 21087763] Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma
|Title||A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease|
|Odds Ratio||1.1400 [1.09-1.19]|
[PMID 18179892] Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
[PMID 18852197] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
[PMID 19060906] Common variants at 30 loci contribute to polygenic dyslipidemia.
[PMID 19185284] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
[PMID 19299407] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
[PMID 19435741] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
[PMID 19679263] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 19956433] Genetics of coronary artery disease: focus on genome-wide association studies.
[PMID 20084173] Magnitude of stratification in human populations and impacts on genome wide association studies.
[PMID 20502693] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
[PMID 20570915] Genetic determinants of major blood lipids in Pakistanis compared with Europeans.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
[PMID 20835900] Genetics of diabetes complications.
[PMID 21242481] Genetic risk score and risk of myocardial infarction in Hispanics.
[PMID 21297524] The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.
[PMID 22152955] Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.
[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy
[PMID 24622110] Multi-Ancestral Analysis of Inflammation-Related Genetic Variants and C-Reactive Protein in the Population Architecture using Genomics and Epidemiology (PAGE) Study
[PMID 23092954] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
[PMID 23100282] Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
[PMID 23398167] Reduced serum progranulin level might be associated with Parkinson's disease risk.
|Trait||Lipid metabolism phenotypes|
|Title||Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.|
|Odds Ratio||5.21 [NR] unit decrease|
[PMID 27329260] Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.
[PMID 29356453] Association between 1p13 polymorphisms and peripheral arterial disease in a Chinese population with diabetes.