rs1059611

This is a 3 prime utr variant variant in the LPL gene.

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GWAS Catalog Trait Associations (20)

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

cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.11
p 2.0e-64
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.08
p 6.0e-34
N 136,016
Large GWAS
multi-ancestry

metabolic syndrome

Ho CY et al. “A Genome-Wide Association Study of Metabolic Syndrome in the Taiwanese Population.” Nutrients 16(1) (2023)
Allele T
OR 0.20
p 5.0e-29
N 107,230
Large GWAS
East Asian
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Hyperlipoproteinemia, type I

View on ClinVar →

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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