rs11206510

This is a intergenic variant variant in the PCSK9 gene.

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GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.07
p 4.0e-103
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
Kathiresan S et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nature Genetics 41(1):56-65 (2009)
Allele T
OR 0.09
p 4.0e-8
N 19,840
Large GWAS
European
Waterworth DM et al. “Genetic variants influencing circulating lipid levels and risk of coronary artery disease.” Arteriosclerosis, Thrombosis, and Vascular Biology 30(11):2264-76 (2010)
Allele T
OR 0.03
p 1.0e-10
N 17,723
Large GWAS
multi-ancestry
Willer CJ et al. “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.” Nature Genetics 40(2):161-9 (2008)
Allele T
OR 3.04
p 4.0e-11
N 8,589
Large GWAS
European

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.06
p 2.0e-95
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.06
p 5.0e-84
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

proprotein convertase subtilisin/kexin type 9 measurement

Pott J et al. “Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.” Human Molecular Genetics 31(6):999-1011 (2022)
Allele C
OR 0.05
p 1.0e-17
N 12,721
Large GWAS
European

coronary artery disease

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele C
OR 0.03
p 3.0e-9
N 640,258
Large GWAS
European, East Asian
Matsunaga H et al. “Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.” Circulation. Genomic and Precision Medicine 13(3):e002670 (2020)
Allele C
OR 1.07
p 1.0e-8
N 392,241
Meta-analysisLarge GWAS
multi-ancestry
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele C
OR 1.08
p 2.0e-8
N 187,599
Meta-analysisLarge GWAS
multi-ancestry

myocardial infarction

Kathiresan S et al. “Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.” Nature Genetics 41(3):334-41 (2009)
Allele T
OR 1.15
p 1.0e-8
N 6,042
Large GWAS
European
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ClinVar annotation

Association
1 submitter

Familial hypercholesterolemia

View on ClinVar →
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Research that mentions this SNP (2)

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BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3
AssociationN=5,792Xin Xiong et al.(2014)· Human Genetics

This case-control association study of 5,792 Chinese Han subjects (2,283 ischemic stroke cases, 3,509 controls) found that rs1122608 in the BRG1/SMARCA4 gene on chromosome 19p13.2 confers protection against ischemic stroke (combined OR 0.73, P adj = 7.86 × 10-5). The protective allele T is associated with increased expression of SFRS3, a splicing factor that may regulate IL-1β expression and reduce atherosclerosis risk.

Traits studied:Coronary artery diseaseIschemic strokeTotal cholesterol
PubMedDOIMetascience Observatory
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Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
AssociationN=5,576Logan Dumitrescu et al.(2012)· Human Genetics

This study investigated gene-environment interactions between 23 GWAS-identified lipid-associated SNPs and serum vitamins A and E in the National Health and Nutrition Examination Surveys (NHANES), including 5,576 participants across three racial/ethnic groups. Nine significant interactions were identified, with the most significant being APOB rs693×vitamin E associated with LDL-C in Mexican Americans (p=8.94×10⁻⁷). These nine interactions explained only 0.35-1.28% of variation in lipid traits, suggesting that gene-environment interactions account for modest proportions of the missing heritability in lipid metabolism.

Traits studied:HDL-C (High-Density Lipoprotein Cholesterol)LDL-C (Low-Density Lipoprotein Cholesterol)Triglycerides
PubMedDOIMetascience Observatory

About PCSK9

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

View all PCSK9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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