Race and genetics versus 'race'in genetics: a systematic review of the use of African ancestry in genetic studies

TM Duello, S Rivedal, C Wickland… - Evolution, medicine, and …, 2021 - academic.oup.com
Social scientists have long understood race to be a social category invented to justify slavery
and evolutionary biologists know the socially constructed racial categories do not align with …

Low cholesterol states: clinical implications and management

PK Gill, RA Hegele - Expert Review of Endocrinology & …, 2023 - Taylor & Francis
Introduction Hypocholesterolemia results from genetic–both monogenic and polygenic–and
non-genetic causes and can sometimes be a source of clinical concern. We review …

Gene editing of pcsk9

JP Maianti, DR Liu - US Patent App. 15/852,526, 2018 - Google Patents
Provided herein are systems, compositions, and methods of introducing loss-of-function
mutations in to protein factors involved in the LDL-R-mediated cholesterol clearance …

Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR

E Bjornsson, K Gunnarsdottir… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: Loss-of-function mutations in the LDL (low-density lipoprotein) receptor gene
(LDLR) cause elevated levels of LDL cholesterol and premature cardiovascular disease. To …

[HTML][HTML] Genomic diversity and differentiation of a managed island wild boar population

L Iacolina, M Scandura, DJ Goedbloed, P Alexandri… - Heredity, 2016 - nature.com
The evolution of island populations in natural systems is driven by local adaptation and
genetic drift. However, evolutionary pathways may be altered by humans in several ways …

LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach

RCC de Freitas, RH Bortolin, JB Borges… - Molecular Biology …, 2023 - Springer
Background Familial hypercholesterolemia (FH) is caused by pathogenic variants in low-
density lipoprotein (LDL) receptor (LDLR) or its associated genes, including apolipoprotein …

[HTML][HTML] Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia

HL Zhao, Y You, Y Tian, L Wang, Y An, G Zhang… - Lipids in Health and …, 2024 - Springer
Background Dyslipidemia, a significant risk factor for atherosclerotic cardiovascular disease
(ASCVD), is influenced by genetic variations, particularly those in the low-density lipoprotein …

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and …

AA Jawabri, A John, MA Ghattas… - Frontiers in Cell and …, 2024 - frontiersin.org
Background Familial hypercholesterolemia (FH) is an autosomal dominant disorder
characterized by increased LDL-cholesterol levels. About 85% of FH cases are caused by …

[HTML][HTML] Impact of 3'UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: a pilot study

T Zambrano, MH Hirata, Á Cerda… - … journal of clinical and …, 2015 - ncbi.nlm.nih.gov
Background: Hypercholesterolemia is a complex trait, resulting from a genetic interaction
with lifestyle habits. Polymorphisms are a major source of genetic heterogeneity, and …

Candidate gene analysis of the fibrinogen phenotype reveals the importance of polygenic co-regulation

HT Cronje, C Nienaber-Rousseau, L Zandberg… - Matrix biology, 2017 - Elsevier
Fibrinogen and its functional aspects have been linked to cardiovascular disease. There is
vast discrepancy between the heritability of fibrinogen concentrations observed in twin …