rs180743
This is a protein-altering variant in the APOBR gene.
▶Research that mentions this SNP (1)
▶Common variants in BDNF, FAIM2, FTO, MC4R, NEGR1, and SH2B1 show association with obesity‐related variables in Spanish Roma populationAssociationN=3,210Alaitz Poveda et al.(2014)· American Journal of Human Biology
This study performed fine mapping of the obesity-associated region chr16p11.2 by screening the coding regions of APOBR, SULT1A1, SULT1A2, and TUFM genes in 95 extremely obese children and adolescents. Two APOBR variants, rs180743 (p.Pro428Ala) and rs3833080 (p.Gly369_Asp370del9), showed significant association with obesity (p=0.002 and p=0.003 respectively) in case-control analysis of 1,873 obese cases versus 435 lean controls, with odds ratios of 1.27 and 1.25 per allele.
About APOBR
Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]
View all APOBR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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