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

Musunuru, Kiran (author)
Strong, Alanna (author)
Frank-Kamenetsky, Maria (author)
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Lee, Noemi E. (author)
Ahfeldt, Tim (author)
Sachs, Katherine V. (author)
Li, Xiaoyu (author)
Li, Hui (author)
Kuperwasser, Nicolas (author)
Ruda, Vera M. (author)
Pirruccello, James P. (author)
Muchmore, Brian (author)
Prokunina-Olsson, Ludmila (author)
Hall, Jennifer L. (author)
Schadt, Eric E. (author)
Morales, Carlos R. (author)
Lund-Katz, Sissel (author)
Phillips, Michael C. (author)
Wong, Jamie (author)
Cantley, William (author)
Racie, Timothy (author)
Ejebe, Kenechi G. (author)
Orho-Melander, Marju (author)
Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups
Melander, Olle (author)
Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups
Koteliansky, Victor (author)
Fitzgerald, Kevin (author)
Krauss, Ronald M. (author)
Cowan, Chad A. (author)
Kathiresan, Sekar (author)
Rader, Daniel J. (author)
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 (creator_code:org_t)
Springer Science and Business Media LLC, 2010
2010
English.
In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7307, s. 2-714
Related links:
http://dx.doi.org/10...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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 gene. With small interfering RNA (siRNA) knockdown and viral overexpression in mouse liver, we demonstrate that Sort1 alters plasma LDL-C and very low-density lipoprotein (VLDL) particle levels by modulating hepatic VLDL secretion. Thus, we provide functional evidence for a novel regulatory pathway for lipoprotein metabolism and suggest that modulation of this pathway may alter risk for MI in humans. We also demonstrate that common noncoding DNA variants identified by GWASs can directly contribute to clinical phenotypes.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Kardiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

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