Burden of familial heterozygous hypercholesterolemia in Uzbekistan: Time is muscle

PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects

“…But it is not equal to FH-causing mutation. Weak gain-of-function mutations in PCSK9 gene may be a part of genetic background of polygenetic FH, but it is difficult to say this is the disease-causing mutation in monogenic FH with the data from the current study in Table 3 and the study of Shek et al (39). Usually, mean LDL-C levels are >4.5 and 6 mmol/L in average in heterozygous FH and 13 mmol/L in homozygous FH.…”

The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis

“…SNP rs505151 (c.2009G > A, E670G), a common gain-of-function mutation, was accompanied with higher TC and LDL-C and interacted with statin treatment. Variant allele carriers of E670G had no significant benefit from statin treatment compared to homozygous wild type carriers who did benefit [33, 34]. SNP rs11591147 (c.137G > T, R46L) was a rare loss-of-function mutation and associated with lower LDL-C concentrations [35].…”

Highlights from the 87th EAS congress, 26–29th May 2019

“…Recent news from the EAS FHSC Registry has highlighted the extent of unmet needs in FH research and care [1], emphasising the importance of this initiative. Professor Kausik Ray (Imperial College, London, UK), who leads the Registry, overviewed new insights from individual lead investigators, including findings from the ELSA-Brazil study showing differences in FH prevalence according to ethnicity [2]; the DIAMOND-FH study in Switzerland showing how low-density lipoprotein cholesterol (LDL-C) levels are influenced by age in people with FH-causing variants in the APOB gene [3]; the impact of universal screening of children on cascade screening for FH in Slovenia [4]; as well as data from Serbia, Slovakia, Uzbekistan and South Africa [5][6][7][8], amongst others, highlighting the issue of undertreatment of FH. In addition, findings from Vietnam emphasised the need for education of FH patients to ensure uptake of statin treatment [9].…”