rs13702
This is a 3 prime utr variant variant in the LPL gene.
▶GWAS Catalog Trait Associations (43)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (43)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol in very large HDL measurement
apolipoprotein B to apolipoprotein A1 ratio
phospholipids:total lipids ratio
apolipoprotein A 1 measurement, apolipoprotein B measurement
concentration of small LDL particles measurement
low-density lipoprotein receptor measurement
apolipoprotein B measurement
cholesteryl esters in small LDL measurement
total lipids in very small VLDL measurement
free cholesterol to total lipids in large VLDL percentage
▶ClinVar annotation
High density lipoprotein cholesterol level quantitative trait locus 11 (HDLCQ11); Hyperlipoproteinemia, type I
View on ClinVar →▶Research that mentions this SNP (2)
▶The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucoseAssociationN=73,014Mohsen Ghanbari et al.(2015)· Obesity
Two miRNA genetic variants were identified as significantly associated with cardiometabolic phenotypes: rs11614913 in miR-196a2 associated with waist-to-hip ratio (P=1.7e-25), and rs174561 in miR-1908 associated with lipid and glucose traits. Functional analyses revealed these variants affect pre-miRNA processing and regulate target genes involved in fat distribution and lipid metabolism.
▶The effects of aMAP2K5microRNA target site SNP on risk for anxiety and depressive disordersAssociationN=6,725Kevin P. Jensen et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This study identified rs41305272, a predicted miR-330-3p target site SNP in MAP2K5, as associated with anxiety and depressive disorders in 6,725 European-American and African-American subjects. The T-allele was significantly associated with agoraphobia (OR=2.22, p=0.0004 combined sample), panic disorder (OR=1.95, p=0.002), and major depressive disorder (OR=1.48, p=0.01). The rs41305272 SNP is in linkage disequilibrium with a restless legs syndrome GWAS variant and showed pathway enrichment for nervous system development genes.
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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