Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
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
Free E-Journal (出版社公開部分のみ)
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 . . .