rs11591147

Chromosome : 1 , Position: 55039974

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: T, A

Associated Genes

PCSK9

DHCR24

BSND

TMEM61

USP24

LEXM

TTC22

PARS2

TTC4

FAM151A

MROH7

MROH7-TTC4

ACOT11

Traits

Trait	Variant	PMID	Author (year)
LDL cholesterol	T	Nat Genet	Willer CJ (2013)
Low density lipoprotein cholesterol levels	T	Diabetes	Klimentidis YC (2020)
Cholesterol, total	T	Nat Genet	Willer CJ (2013)
Serum 25-Hydroxyvitamin D levels	T	Nat Commun	Revez JA (2020)
"Hyperlipidaemia, other/unspecified"	T	Unknown journal	FINNGEN_R5 (2021)
"Myocardial infarction, strict"	T	Unknown journal	FINNGEN_R5 (2021)
"Myocardial infarction, strict" (no controls excluded)	T	Unknown journal	FINNGEN_R5 (2021)
Atorvastatin \| treatment/medication code	T	Unknown journal	UKB Neale v2 (2018)
Cholesterol lowering medication \| medication for cholesterol, blood pressure or diabetes	T	Unknown journal	UKB Neale v2 (2018)
Cholesterol lowering medication \| medication for cholesterol, blood pressure, diabetes, or take exogenous hormones	T	Unknown journal	UKB Neale v2 (2018)
Coronary angiopasty	T	Unknown journal	FINNGEN_R5 (2021)
Coronary artery disease	T	Circ Res	van der Harst P (2017)
Coronary atherosclerosis	T	Unknown journal	FINNGEN_R5 (2021)
Coronary atherosclerosis (no controls excluded)	T	Unknown journal	FINNGEN_R5 (2021)
Coronary revascularization (ANGIO or CABG)	T	Unknown journal	FINNGEN_R5 (2021)
Coronary revascularization (ANGIO or CABG) (no controls excluded)	T	Unknown journal	FINNGEN_R5 (2021)
Disorders of lipoid metabolism	T	Unknown journal	UKB SAIGE (2018)
Disorders of lipoprotein metabolism and other lipidaemias	T	Unknown journal	FINNGEN_R5 (2021)
Emergency coronary revascularization (for ACS) (no controls excluded)	T	Unknown journal	FINNGEN_R5 (2021)
Heart disease \| illnesses of father	T	Unknown journal	UKB Neale v2 (2018)
High cholesterol \| non-cancer illness code, self-reported	T	Unknown journal	UKB Neale v2 (2018)
Hypercholesterolemia	T	Unknown journal	UKB SAIGE (2018)
Hyperlipidemia	T	Unknown journal	UKB SAIGE (2018)
Ischemic heart disease	T	Unknown journal	UKB SAIGE (2018)
Major coronary heart disease event	T	Unknown journal	FINNGEN_R5 (2021)
Metabolic disorders	T	Unknown journal	FINNGEN_R5 (2021)
Myocardial infarction	T	Unknown journal	FINNGEN_R5 (2021)
Myocardial infarction (no controls excluded)	T	Unknown journal	FINNGEN_R5 (2021)
None of the above \| medication for cholesterol, blood pressure or diabetes	T	Unknown journal	UKB Neale v2 (2018)
Pure hypercholesterolaemia	T	Unknown journal	FINNGEN_R5 (2021)
Simvastatin \| treatment/medication code	T	Unknown journal	UKB Neale v2 (2018)
Statin medication	T	Unknown journal	FINNGEN_R5 (2021)

Summary

rs11591147, also known as R46L, is a SNP in the PCSK9 gene. As early as 2006, the minor rs11591147(T) allele was reported to be associated with lower LDL cholesterol levels, and most studies since have found that this also correlates to a two to three fold reduced risk for both early- and late-onset cardiovascular events and disease.

As part of a 9 SNP set studied in a meta-analysis totaling over 300,000 patients, rs11591147 was the SNP with the greatest effect on LDL-C and therefore cardiovascular risk reduction.[SORT1

rs646776(C), SORT1

rs2228671(T), LDLR

rs11206510(C), PCSK9

rs4299376(T), ABCG8

rs12916(T), HMGCR

23andMe blog The T version of rs11591147 and the A version of rs28362286 have both been associated with decreased LDL levels. Each copy of these variants leads to lower LDL cholesterol.

[PMID 19773416] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women

[PMID 17903299] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.

[PMID 19060911] Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

[PMID 19148283] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

[PMID 19336475] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19913121] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

[PMID 20018036] Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.

[PMID 20031607] Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

[PMID 21285406] Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study.

[PMID 22065156] Rosuvastatin, proprotein convertase subtilisin/kexin type 9 concentrations, and LDL cholesterol response: the JUPITER trial.

[PMID 23220704] PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or non-cardiovascular clinical events in an elderly population

[PMID 23300213] PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Population Alleles Frequency

ethhicity frequency	T	A
African/African-American	0.0029	–
Latino/Admixed American	0.0047	–
Ashkenazi Jewish	0.0069	–
East Asian	–	–
European	0.015	–
Other (population not assigned)	0.0147	–

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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