Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Novel genes in LDL metabolism--a comprehensive overview

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Apolipoprotein M/sphingosine-1-phosphate: novel effects on lipids, inflammation and kidney biology

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Remnant lipoproteins

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Relation between plasma and brain lipids

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Using human genetics to predict the effects and side-effects of drugs

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Apolipoprotein M in lipid metabolism and cardiometabolic diseases

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Apolipoprotein M and risk of type 2 diabetes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. The European Heart Journal: leading the fight to reduce the global burden of cardiovascular disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genetic variants in SUSD2 are associated with the risk of ischemic heart disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Genetic variation at PPP1R3B increases hepatic CT attenuation and interacts with prandial status on plasma glucose

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

PURPOSE OF REVIEW: To summarize recent findings from genome-wide association studies (GWAS), whole-exome sequencing of patients with familial hypercholesterolemia and 'exome chip' studies pointing to novel genes in LDL metabolism.

RECENT FINDINGS: The genetic loci for ATP-binding cassette transporters G5 and G8, Niemann-Pick C1-Like protein 1, sortilin-1, ABO blood-group glycosyltransferases, myosin regulatory light chain-interacting protein and cholesterol 7α-hydroxylase have all consistently been associated with LDL cholesterol levels and/or coronary artery disease in GWAS. Whole-exome sequencing and 'exome chip' studies have additionally suggested several novel genes in LDL metabolism including insulin-induced gene 2, signal transducing adaptor family member 1, lysosomal acid lipase A, patatin-like phospholipase domain-containing protein 5 and transmembrane 6 superfamily member 2. Most of these findings still require independent replications and/or functional studies to confirm the exact role in LDL metabolism and the clinical implications for human health.

SUMMARY: GWAS, exome sequencing studies, and recently 'exome chip' studies have suggested several novel genes with effects on LDL cholesterol. Novel genes in LDL metabolism will improve our understanding of mechanisms in LDL metabolism, and may lead to the identification of new drug targets to reduce LDL cholesterol levels.

OriginalsprogEngelsk
TidsskriftCurrent Opinion in Lipidology
Vol/bind26
Udgave nummer3
Sider (fra-til)179-87
Antal sider9
ISSN0957-9672
DOI
StatusUdgivet - jun. 2015

ID: 45821845