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The New England journal of medicine, 2016-03, Vol.374 (12), p.1134-1144
2016
Volltextzugriff (PDF)

Details

Autor(en) / Beteiligte
Titel
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
Ist Teil von
  • The New England journal of medicine, 2016-03, Vol.374 (12), p.1134-1144
Ort / Verlag
United States: Massachusetts Medical Society
Erscheinungsjahr
2016
Quelle
MEDLINE
Beschreibungen/Notizen
  • Searching for genes in which loss-of-function mutations confer protection against disease is a strategy to identity drug targets. This study reports an association between loss-of-function mutations in ANGPTL4 and protection against coronary artery disease. Although genomewide association studies have identified more than 56 loci associated with the risk of coronary artery disease, 1 – 3 the disease-associated variants are typically common (minor-allele frequency >5%) and located in noncoding sequences; this has made it difficult to pinpoint causal genes and affected pathways. This lack of a causal mechanism has in part hindered the immediate translation of the findings of genomewide association studies into new therapeutic targets. However, the discovery of rare or low-frequency coding-sequence variants that affect the risk of coronary artery disease has facilitated advances in the prevention and treatment of disease. The most recent example . . .

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