Genetic variation at chromosome 1p13. 3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery …

P Linsel-Nitschke, J Heeren, Z Aherrahrou, P Bruse… - Atherosclerosis, 2010 - Elsevier
BACKGROUND: A single nucleotide polymorphism (SNP) rs599839 located at chromosome
1p13. 3 has previously been associated with risk of coronary artery disease (CAD) and with
serum levels of low-density lipoprotein cholesterol (LDL-C). A functional link explaining the
association of SNP rs599839 with LDL-C levels and CAD risk has not yet been elucidated.
METHODS: We analyzed the association of rs599839 with LDL-C in 6605 individuals across
a wide age spectrum and with CAD in four case–control studies comprising 4287 cases and …