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Article

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.

Nature - 5 Aug 2010

Musunuru Kiran, Strong Alanna, Frank-Kamenetsky Maria, Lee Noemi E, Ahfeldt Tim, Sachs Katherine V, Li Xiaoyu, Li Hui, Kuperwasser Nicolas, Ruda Vera M, Pirruccello James P, Muchmore Brian, Prokunina-Olsson Ludmila, Hall Jennifer L, Schadt Eric E, Morales Carlos R, Lund-Katz Sissel, Phillips Michael C, Wong Jamie, Cantley William, Racie Timothy, Ejebe Kenechi G, Orho-Melander Marju, Melander Olle, Koteliansky Victor, Fitzgerald Kevin, Krauss Ronald M, Cowan Chad A, Kathiresan Sekar, Rader Daniel J

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Adaptor Proteins, Vesicular Transport
Share to CCAAT-Enhancer-Binding Proteins
Share to Cholesterol, LDL
Share to Chromosomes, Human, Pair 1
Share to Gene Knockdown Techniques
Share to Hepatocytes
Share to Lipoproteins, VLDL
Share to Myocardial Infarction

Source

Open in PubMed Open full text

Identifiers

PMID: 20686566
DOI: 10.1038/nature09266
PMCID: PMC3062476

Genes

SORT1
EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.PMID 20686566Read ↗

Genome-wide association studies identify new targets in cardiovascular disease.Semantic proximity Read ↗

Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Sortilin and lipoprotein metabolism: making sense out of complexity.Semantic proximity Read ↗

Interrogation of the Atherosclerosis-Associated SORT1 (Sortilin 1) Locus With Primary Human Hepatocytes, Induced Pluripotent Stem Cell-Hepatocytes, and Locus-Humanized Mice.Semantic proximity Read ↗

PSRC1 May Affect Coronary Artery Disease Risk by Altering CELSR2, PSRC1, and SORT1 Gene Expression and Circulating Granulin and Apolipoprotein B Protein LevelsSemantic proximity Read ↗

SUGP1 is a novel regulator of cholesterol metabolism.Semantic proximity Read ↗

Sortilin as a regulator of lipoprotein metabolism.Semantic proximity Read ↗

Genome-wide studies of gene expression relevant to coronary artery disease.Semantic proximity Read ↗

Sortilin: an unusual suspect in cholesterol metabolism: from GWAS identification to in vivo biochemical analyses, sortilin has been identified as a novel mediator of human lipoprotein metabolism.Semantic proximity Read ↗

Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significanceSemantic proximity Read ↗

Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.Semantic proximity Read ↗

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