Ontology highlight
ABSTRACT:
SUBMITTER: Musunuru K
PROVIDER: S-EPMC3062476 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Musunuru Kiran K Strong Alanna A Frank-Kamenetsky Maria M Lee Noemi E NE Ahfeldt Tim T Sachs Katherine V KV Li Xiaoyu X Li Hui H Kuperwasser Nicolas N Ruda Vera M VM Pirruccello James P JP Muchmore Brian B Prokunina-Olsson Ludmila L Hall Jennifer L JL Schadt Eric E EE Morales Carlos R CR Lund-Katz Sissel S Phillips Michael C MC Wong Jamie J Cantley William W Racie Timothy T Ejebe Kenechi G KG Orho-Melander Marju M Melander Olle O Koteliansky Victor V Fitzgerald Kevin K Krauss Ronald M RM Cowan Chad A CA Kathiresan Sekar S Rader Daniel J DJ
Nature 20100801 7307
Recent genome-wide association studies (GWASs) have identified a locus on chromosome 1p13 strongly associated with both plasma low-density lipoprotein cholesterol (LDL-C) and myocardial infarction (MI) in humans. Here we show through a series of studies in human cohorts and human-derived hepatocytes that a common noncoding polymorphism at the 1p13 locus, rs12740374, creates a C/EBP (CCAAT/enhancer binding protein) transcription factor binding site and alters the hepatic expression of the SORT1 g ...[more]