The fine line between familial and polygenic hypercholesterolemia

Clinical Lipidology

Volumn 8, Issue 3, 2013, Pages 303-306

  De Castro Orós, Isabel ^a   Pocoví, Miguel ^b   Civeira, Fernando ^a  

^a HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

Author keywords

familial hypercholesterolemia; LDL receptor gene; polygenic hypercholesterolemia; SNP gene score

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

APOB GENE; ARTICLE; CHOLESTEROL BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPERCHOLESTEROLEMIA; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MUTATIONAL ANALYSIS; PCSK9 GENE; POLYGENIC HYPERCHOLESTEROLEMIA; PRIORITY JOURNAL; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 84878682923     PISSN: 17584299     EISSN: 17584302     Source Type: Journal    
DOI: 10.2217/clp.13.20     Document Type: Article

References (18)

1. Goldstein J, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS et al. (Eds). Mc Graw-Hill, NY, USA, 2863-2913 (2001).
2. Scientific Steering Committee on behalf of the Simon Broome Register Group: risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 303(6807), 893-896 (1991).
3. Civeira F; International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 173(1), 55-68 (2004).
4. Civeira F, Ros E, Jarauta E et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am. J. Cardiol. 102(9), 1187-1193 (2008).
5. Teslovich TM, Musunuru K, Smith AV et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466(7307), 707-713 (2010).
6. Talmud PJ, Shah S, Whittall R et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic hypercholesterolaemia: a case-control study. Lancet 381(9874), 1293-1301 (2013).
7. Marmot MG, Smith GD, Stansfeld S et al. Health inequalities among British civil servants: the Whitehall II study. Lancet 337(8754), 1387-1393 (1991).
8. Bennet AM, Di Angelantonio E, Ye Z et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA 298(11), 1300-1311 (2007).
9. Marduel M, Ouguerram K, Serre V et al. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. Hum. Mutat. 34(1), 83-87 (2013).
10. Solanas-Barca M, de Castro-Orós I, Mateo-Gallego R et al. Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. Atherosclerosis 222(2), 449-455 (2012).
11. Cenarro A, García-Otín AL, Tejedor MT et al. A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22. Clin. Genet. 79(5), 475-481 (2011).
12. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 303(6807), 893-896 (1991).
13. Williams RR, Hunt SC, Schumacher MC et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am. J. Cardiol. 72(2), 171-176 (1993).
14. Defesche J. Familial hypercholesterolemia. In: Lipids and Vascular Disease. Betteridge J (Ed.). Martin Dunitz, London, UK, 6, 65-76 (2000).
15. Civeira F, Jarauta E, Cenarro A et al. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J. Am. Coll. Cardiol. 52(19), 1546-1553 (2008).
16. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in The Netherlands. Lancet 357(9251), 165-168 (2001).
17. Wierzbicki AS, Humphries SE, Minhas R. Guideline Development Group. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 337, 1095 (2008).
18. De Castro-Orós I, Pocoví M, Civeira F. The genetic basis of familial hypercholesterolemia, inheritance, linkage, and mutations. Appl. Clin. Genet. 3(1), 53-64 (2010).