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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 disease

Linsel-Nitschke, Patrick ; Heeren, Jörg ; Aherrahrou, Zouhair ; Bruse, Petra ; Gieger, Christian ; Illig, Thomas ; Prokisch, Holger ; Heim, Katharina ; Doering, Angela ; Peters, Annette ; Meitinger, Thomas ; Wichmann, H.-Erich ; Hinney, Anke ; Reinehr, Thomas ; Roth, Christian ; Ortlepp, Jan. R. ; Soufi, Mouhidien ; Sattler, Alexander M. ; Schaefer, Jürgen ; Stark, Klaus ; Hengstenberg, Christian ; Schaefer, Arne ; Schreiber, Stefan ; Kronenberg, Florian ; Samani, Nilesh J. ; Schunkert, Heribert ; Erdmann, Jeanette



Zusammenfassung

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 ...

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