1 Harada-Shiba, M. et al. Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. J Atheroscler Thromb25, 751-770, doi:10.5551/jat.CR003 (2018).
2 Leigh, S. et al. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. J Med Genet54, 217-223, doi:10.1136/jmedgenet-2016-104054 (2017).
3 Saint-Jore, B. et al. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects. Eur J Hum Genet8, 621-630, doi:10.1038/sj.ejhg.5200516 (2000).
4 Ghosh, S., Majumder, B. & Dutta, A. Tuberous xanthoma as a presenting feature of familial homozygous hypercholesterolemia with aortic regurgitation. The Journal of pediatrics166, 198, doi:10.1016/j.jpeds.2014.09.022 (2015).
5 Mabuchi, H. et al. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis214, 404-407, doi:10.1016/j.atherosclerosis.2010.11.005 (2011).
6 Singh, S. & Bittner, V. Familial hypercholesterolemia--epidemiology, diagnosis, and screening. Curr Atheroscler Rep17, 482, doi:10.1007/s11883-014-0482-5 (2015).
7 Watts, G. F., Lewis, B. & Sullivan, D. R. Familial hypercholesterolemia: a missed opportunity in preventive medicine. Nat Clin Pract Cardiovasc Med4, 404-405, doi:10.1038/ncpcardio0941 (2007).
8 Iacocca, M. A. et al. ClinVar database of global familial hypercholesterolemia-associated DNA variants. Hum Mutat39, 1631-1640, doi:10.1002/humu.23634 (2018).
9 Hori, M. et al. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Atherosclerosis289, 101-108, doi:10.1016/j.atherosclerosis.2019.08.004 (2019).
10 D'Erasmo, L., Di Costanzo, A. & Arca, M. Autosomal recessive hypercholesterolemia: update for 2020. Current opinion in lipidology31, 56-61, doi:10.1097/mol.0000000000000664 (2020).
11 Hobbs, H. H., Brown, M. S. & Goldstein, J. L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat1, 445-466, doi:10.1002/humu.1380010602 (1992).
12 Sharifi, M., Futema, M., Nair, D. & Humphries, S. E. Genetic Architecture of Familial Hypercholesterolaemia. Curr Cardiol Rep19, 44, doi:10.1007/s11886-017-0848-8 (2017).
13 Lagace, T. A. et al. Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. J Clin Invest116, 2995-3005, doi:10.1172/JCI29383 (2006).
14 Brown, M. S. & Goldstein, J. L. Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity. Proc Natl Acad Sci U S A71, 788-792, doi:10.1073/pnas.71.3.788 (1974).
15 Nohara, A. et al. Homozygous Familial Hypercholesterolemia. J Atheroscler Thromb28, 665-678, doi:10.5551/jat.RV17050 (2021).
16 Defesche, J. C. et al. Familial hypercholesterolaemia. Nat Rev Dis Primers3, 17093, doi:10.1038/nrdp.2017.93 (2017).
17 Banerjee, P. et al. Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity. Arterioscler Thromb Vasc Biol39, 2248-2260, doi:10.1161/ATVBAHA.119.313051 (2019).
18 Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ303, 893-896, doi:10.1136/bmj.303.6807.893 (1991).
19 Familial hypercholesterolaemia (FH): report of a second WHO consultation, Geneva, 4 September 1998. World Health Organization (1999).
20 Goldberg, A. C. et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol5, 133-140, doi:10.1016/j.jacl.2011.03.001 (2011).
21 Soutar, A. & Naoumova, R. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nature clinical practice. Cardiovascular medicine4, 214-225, doi:10.1038/ncpcardio0836 (2007).
22 Marks, D., Thorogood, M., Neil, H. A. & Humphries, S. E. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis168, 1-14, doi:10.1016/s0021-9150(02)00330-1 (2003).
23 Mikhailova, S., Ivanoshchuk, D., Timoshchenko, O. & Shakhtshneider, E. Genes Potentially Associated with Familial Hypercholesterolemia. Biomolecules9, doi:10.3390/biom9120807 (2019).
24 Rodenburg, J. et al. Familial hypercholesterolemia in children. Curr Opin Lipidol15, 405-411, doi:10.1097/01.mol.0000137228.92396.f3 (2004).
25 Neil, H. A. et al. Non-coronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: a prospective registry study. Atherosclerosis179, 293-297, doi:10.1016/j.atherosclerosis.2004.10.011 (2005).
26 Sturm, A. C. et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol72, 662-680, doi:10.1016/j.jacc.2018.05.044 (2018).
27 Horton, J. D., Cohen, J. C. & Hobbs, H. H. Molecular biology of PCSK9: its role in LDL metabolism. Trends Biochem Sci32, 71-77, doi:10.1016/j.tibs.2006.12.008 (2007).
28 Hori, M., Takahashi, A., Son, C., Ogura, M. & Harada-Shiba, M. The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia. Lipids Health Dis19, 62, doi:10.1186/s12944-020-01252-4 (2020).
29 Mabuchi, H. et al. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Atherosclerosis236, 54-61, doi:10.1016/j.atherosclerosis.2014.06.005 (2014).
30 Steyn, K. et al. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet98, 479-484, doi:10.1007/s004390050243 (1996).
31 Austin, M. A., Hutter, C. M., Zimmern, R. L. & Humphries, S. E. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol160, 407-420, doi:10.1093/aje/kwh236 (2004).
32 Hernandez Flores, T. J. et al. LDLR Gene Mutation p.Asp360His and Familial Hypercholesterolemia in a Mexican Community. Arch Med Res51, 153-159, doi:10.1016/j.arcmed.2019.12.017 (2020).
33 Mollaki, V. & Drogari, E. Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward. J Clin Lipidol10, 748-756, doi:10.1016/j.jacl.2016.02.020 (2016).
34 Jiang, L. et al. The distribution and characteristics of LDL receptor mutations in China: A systematic review. Sci Rep5, 17272, doi:10.1038/srep17272 (2015).
35 Tomlinson, B., Hu, M. & Chow, E. Current status of familial hypercholesterolemia in Chinese populations. Curr Opin Lipidol30, 94-100, doi:10.1097/MOL.0000000000000580 (2019).
36 Strom, T. B., Laerdahl, J. K. & Leren, T. P. Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR. Hum Mol Genet24, 5836-5844, doi:10.1093/hmg/ddv304 (2015).
37 Strom, T. B., Tveten, K., Laerdahl, J. K. & Leren, T. P. Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum. FEBS Open Bio4, 321-327, doi:10.1016/j.fob.2014.03.007 (2014).
38 Etxebarria, A. et al. Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment. PLoS One9, e112677, doi:10.1371/journal.pone.0112677 (2014).
39 Soutar, A. K. & Naoumova, R. P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med4, 214-225, doi:10.1038/ncpcardio0836 (2007).
40 Besseling, J., Kastelein, J. J., Defesche, J. C., Hutten, B. A. & Hovingh, G. K. Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitus. JAMA313, 1029-1036, doi:10.1001/jama.2015.1206 (2015).
41 Lazaro, P. et al. Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia. J Clin Lipidol11, 260-271, doi:10.1016/j.jacl.2017.01.002 (2017).
42 Leren, T. P. Cascade genetic screening for familial hypercholesterolemia. Clin Genet66, 483-487, doi:10.1111/j.1399-0004.2004.00320.x (2004).
43 Goldberg, A. C. et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol5, S1-8, doi:10.1016/j.jacl.2011.04.003 (2011).
44 Huijgen, R., Hutten, B. A., Kindt, I., Vissers, M. N. & Kastelein, J. J. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet5, 354-359, doi:10.1161/CIRCGENETICS.111.962456 (2012).