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A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor

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Rimbert, Antoine | Dalila, Nawar | Wolters, Justina | Huijkman, Nicolette | Smit, Marieke | Kloosterhuis, Niels | Riemsma, Marijn | van Der Veen, Ydwine | Singla, Amika | van Dijk, Freerk | Frikke-Schmidt, Ruth | Burstein, Ezra | Tybjærg-Hansen, Anne | van de Sluis, Bart | Kuivenhoven, Jan Albert

Edité par CCSD ; Oxford University Press (OUP) -

International audience. Genome-wide association studies have previously identified INSIG2 as a candidate gene for plasma low-density lipoprotein cholesterol (LDL-c). However, we suspect a role for CCDC93 in the same locus because of its involvement in the recycling of the LDL-receptor (LDLR).

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