rs320

This is a intron variant variant in the LPL gene.

▶

GWAS Catalog Trait Associations (6)

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

diacylglycerol 36:3 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 0.08

p 1.0e-12

N 13,814

Large GWAS

European

level of phosphatidylcholine

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 9.0e-12

N 13,814

Large GWAS

European

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 G

OR 0.11

p 3.0e-11

N 13,814

Large GWAS

European

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 G

OR 0.09

p 4.0e-11

N 13,814

Large GWAS

European

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 0.08

p 6.0e-11

N 13,814

Large GWAS

European

diacylglycerol 36:2 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 0.07

p 1.0e-10

N 13,814

Large GWAS

European

▶

ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight

ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes

PubMed DOI Metascience Observatory

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]

rs320

GWAS Catalog Trait Associations (6)

diacylglycerol 36:3 measurement

level of phosphatidylcholine

triglyceride measurement

sphingomyelin measurement

diacylglycerol 34:2 measurement

diacylglycerol 36:2 measurement

ClinVar annotation

Research that mentions this SNP (1)

About LPL

Community Wiki

Comments