Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Chamara Sampath PaththinigeJ R D K RajapakseG R ConstantineK P SemR R SingarajaR W JayasekaraV H W Dissanayake

Published in: Lipids in health and disease (2018)

The frequency of known mutations in the LDLR gene in this cohort of patients was markedly low compared to frequencies reported in other populations. This highlights the likelihood of a complex, polygenic inheritance of FH in Sri Lankan patients, indicating the need for a comprehensive genetic evaluation that includes the screening for mutations in other genes that cause FH, such as APOB, PCSK9, and LDLRAP1.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
gene expression
patient reported outcomes
mitochondrial dna
binding protein