rs11570891
This variant is located in the LPL gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
diacylglycerol 34:1 measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele G
OR 0.09
p 1.0e-29
N 5,662
Large GWAS
South Asian
diacylglycerol 34:2 measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele A
OR 0.08
p 1.0e-29
N 5,662
Large GWAS
South Asian
sphingomyelin measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.09
p 1.0e-29
N 5,662
Large GWAS
South Asian
triglyceride measurement
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele T
OR 0.08
p 1.0e-29
N 5,662
Large GWAS
South Asian
Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele T
OR 0.33
p 3.0e-8
N 2,045
Large GWAS
European
Huang S et al. “The Born in Guangzhou Cohort Study enables generational genetic discoveries.” Nature 626(7999):565-573 (2024)
Allele T
OR —
β 0.360
p 1.0e-8
N 1,442
Large GWAS
East Asian
aortic stenosis, aortic valve calcification
Thériault S et al. “Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation.” Nature Communications 15(1):2407 (2024)
Allele C
OR —
p 7.0e-9
N 956,682
Large GWAS
European
▶ClinVar annotation
About LPL
LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
View all LPL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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