rs75278536
This variant is located in the LPL gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele G
OR 0.17
p 4.0e-260
N 288,127
Large GWAS
East Asian
Cheng S et al. “The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.” Cell Discovery 9(1):75 (2023)
Allele G
OR 0.20
p 2.0e-14
N 10,241
Large GWAS
East Asian
Hyperlipidemia
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 1.0e-29
N 587,470
Major Consortium StudyLarge 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
triglyceride measurement, high density lipoprotein cholesterol measurement
Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)
Allele G
OR 0.20
p 2.0e-10
Large GWAS
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 A
OR 0.06
p 3.0e-10
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 G
OR 0.05
p 3.0e-10
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 0.10
p 3.0e-10
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 0.05
p 3.0e-10
N 5,662
Large GWAS
South Asian
lipid measurement
Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)
Allele G
OR 0.27
p 1.0e-8
N 2,321
Large GWAS
East Asian
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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