Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Geethanjali Devadoss GandhiWaleed AamerNavaneethakrishnan KrishnamoorthyNajeeb SyedElbay AliyevAljazi Al-MaraghiMuhammad KohailanJamil AlenbawiMohammed Elanbarinull nullBorbala MifsudYounes MokrabCharbel Abi KhalilKhalid A FakhroPublished in: Journal of translational medicine (2022)
We design and implement a standardized approach to phenotyping a population biobank for FH risk followed by systematically identifying known variants and assessing putative novel variants contributing to FH burden in Qatar. Our results motivate similar studies in population-level biobanks - especially those with globally under-represented ancestries - and highlight the importance of genetic screening programs for early detection and management of individuals with high FH risk in health systems.