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...
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Ist Teil von
Nature genetics, 2022-03, Vol.54 (3), p.240-3
Ort / Verlag
New York: Nature Publishing Group
Erscheinungsjahr
2022
Link zum Volltext
Beschreibungen/Notizen
[...]exome sequencing-which is focused on the protein-coding regions of the genome-may directly implicate genes in phenotype variability through burden testing of multiple rare protein-coding variants15. [...]analysis of rare coding variation can help establish the directionality of impaired gene function through the analysis of loss-of-function (LOF) alleles, a feature that can be informative both for understanding disease mechanisms and for potential therapeutic targeting. [...]we describe the frequency of mutations in genes underlying cardiovascular diseases and monogenic diabetes. Importantly, the novel associations that we identified remained robust in a LOVO analysis (Supplementary Fig. 10). [...]the genes significantly associated with diseases or traits were identified due to a burden of multiple contributing rare variants, although in certain cases-such as the associations of ANGPTL2 with height and NR1H3 with HDL-single variants were important.