References
- 1. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease. Eur Heart J 2013;34:3478-90. DOI: 10.1093/eurheartj/eht27310.1093/eurheartj/eht273384415223956253
- 2. McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB. Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia. J Am Heart Assoc 2019;8:e013225. DOI: 10.1161/JAHA.119.01322510.1161/JAHA.119.013225695106531838973
- 3. Khera A V., Hegele RA. What Is Familial Hypercholesterolemia, and Why Does It Matter? Circulation 2020;141:1760-3. DOI: 10.1161/CIRCULATIONAHA.120.04696110.1161/CIRCULATIONAHA.120.046961729954332479201
- 4. Vrablik M, Tichý L, Freiberger T, Blaha V, Satny M, Hubacek JA. Genetics of Familial Hypercholesterolemia: New Insights. Front Genet 2020;11:1183. DOI: 10.3389/fgene.2020.57447410.3389/fgene.2020.574474757581033133164
- 5. Knowles JW, Rader DJ, Khoury MJ. Cascade screening for familial hypercholesterolemia and the use of genetic testing. JAMA - J Am Med Assoc 2017;318:381-2. DOI: 10.1001/jama.2017.854310.1001/jama.2017.8543616643128742895
- 6. FH Score n.d. https://www.fhscore.eu/#/fhQuestionnaire (accessed June 23, 2021).
- 7. Kõressaar T, Lepamets M, Kaplinski L, Raime K, Andreson R, Remm M. Primer3-masker: Integrating masking of template sequence with primer design software. Bioinformatics 2018;34:1937-8. DOI: 10.1093/bioinformatics/bty03610.1093/bioinformatics/bty03629360956
- 8. SNPCheck n.d. https://genetools.org/SNPCheck/credits.htm (accessed June 20, 2021).
- 9. UCSC In-Silico PCR n.d. https://genome.ucsc.edu/cgibin/hgPcr (accessed June 20, 2021).
- 10. The LDLR gene homepage - Global Variome shared LOVD n.d. https://databases.lovd.nl/shared/genes/LDLR (accessed June 23, 2021).
- 11. Bianconi V, Banach M, Pirro M. Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels. Trends Cardiovasc Med 2020;31:205-15. DOI: 10.1016/j.tcm.2020.03.00410.1016/j.tcm.2020.03.00432205033
- 12. Kramer A, Jansen ACM, Van Aalst-Cohen ES, Tanck MWT, Kastelein JJP, Zwinderman AH. Relative risk for cardiovascular atherosclerotic events after smoking cessation: 6-9 Years excess risk in individuals with familial hypercholesterolemia. BMC Public Health 2006;6:262. DOI: 10.1186/1471-2458-6-26210.1186/1471-2458-6-262163571017054804
- 13. López G, Bernal LM, Gelvez N, Gómez LF, Nova A, Sánchez AI, et al. Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia. Atherosclerosis 2018;277:434-9. DOI: 10.1016/j.atherosclerosis.2018.08.05210.1016/j.atherosclerosis.2018.08.05230270082
- 14. Paththinige CS, Rajapakse JRDK, Constantine GR, Sem KP, Singaraja RR, Jayasekara RW, et al. Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report. Lipids Health Dis 2018;17:1-7. DOI: 10.1186/s12944-018-0763-z10.1186/s12944-018-0763-z593288529720182
- 15. rs1359242501 (SNP) - Population genetics - Homo_sapiens - Ensembl genome browser 104 n.d. https://www.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=19:11133036-11134036;v=rs1359242501;vdb=variation;vf=390978283 (accessed June 24, 2021).
- 16. Search: rs1359242501 - NLM n.d. https://www.ncbi.nlm.nih.gov/search/all/?term=rs1359242501 (accessed June 24, 2021).
- 17. rs1359242501 - Google search. https://www.google.com/search?q=rs1359242501 (accessed June 24, 2021).
- 18. VCV000183138.6 - ClinVar - NCBI n.d. https://www.ncbi.nlm.nih.gov/clinvar/variation/183138/#id_second (accessed June 24, 2021).
- 19. De Oliveira F, Berretta J, De Almeida Junior G, De Almeida S, Chen E, Smith M, et al. Pharmacogenetic analyses of variations of measures of cardiovascular risk in Alzheimer’s dementia. Indian J Med Res 2019;150:261-71. DOI: 10.4103/ijmr.IJMR_1209_1710.4103/ijmr.IJMR_1209_17688614731719297
- 20. VCV000200916.5 - ClinVar - NCBI n.d. https://www.ncbi.nlm.nih.gov/clinvar/variation/200916/ (accessed June 24, 2021).
- 21. Ekrami M, Torabi M, Ghafouri-Fard S, Mowla J, Soltani BM, Hashemi-Gorji F, et al. Genetic analysis of Iranian patients with familial hypercholesterolemia. Iran Biomed J 2018;22:117-22.
- 22. Komarova TY, Korneva VA, Kuznetsova TY, Golovina AS, Vasilyev VB, Mandelshtam MY. Familial hypercholesterolemia mutations in Petrozavodsk: No similarity to St. Petersburg mutation spectrum. BMC Med Genet 2013;14:1-5. DOI: 10.1186/1471-2350-14-12810.1186/1471-2350-14-128387796024373485
- 23. VCV000252262.5 - ClinVar - NCBI n.d. https://www.ncbi.nlm.nih.gov/clinvar/variation/252262/ (accessed June 24, 2021).
- 24. Chiang HL, Wu JY, Chen YT. Identification of functional single nucleotide polymorphisms in the branch-point site. Hum Genomics 2017;11:1-6. DOI: 10.1186/s40246-017-0122-610.1186/s40246-017-0122-6568077429121990
- 25. Safarova MS, Satterfield BA, Fan X, Austin EE, Ye Z, Bastarache L, et al. A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. Npj Genomic Med 2019;4. DOI: 10.1038/s41525-019-0078-710.1038/s41525-019-0078-7637086030774981
- 26. Reeskamp LF, Tromp TR, Defesche JC, Grefhorst A, Stroes ES, Hovingh GK, et al Next-generation sequencing to confirm clinical familial hypercholesterolemia. Eur J Prev Cardiol. 2020 Jul 27:2047487320942996. DOI: 10.1177/204748732094299610.1177/204748732094299632718233