rs11172113
This variant is located in the LRP1 gene.
▶GWAS Catalog Trait Associations (27)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (27)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
migraine disorder
Headache
spontaneous coronary artery dissection
FEV/FVC ratio
aneurysm
aortic aneurysm
appendicular lean mass
level of SPARC-related modular calcium-binding protein 2 in blood serum
coronary atherosclerosis
migraine without aura, susceptibility to, 4
▶Research that mentions this SNP (1)
▶Using a Genetic Risk Score Approach to Predict Headache Response to Triptans in Migraine Without AuraAssociationN=172Sarah Cargnin et al.(2019)· The Journal of Clinical Pharmacology
A genetic risk score combining risk alleles at TRPM8 rs6724624 and FGF6 rs1024905 was inversely associated with inconsistent response to triptans in 172 migraine without aura (MwoA) patients (OR 0.62, 95% CI 0.43-0.89, FDR q=0.045). Adding this 2-SNP genetic risk score to a triptan-adjusted model significantly improved discrimination accuracy from AUC 0.57 to 0.64 (P=0.037), suggesting potential utility for predicting poor triptan responders.
About LRP1
This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]
View all LRP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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