Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

Clinical Chemistry

Volumn 61, Issue 1, 2015, Pages 231-238

  Futema, Marta ^a   Shah, Sonia ^a,b   Cooper, Jackie A ^a   Li, Kawah ^a   Whittall, Ros A ^a   Sharifi, Mahtab ^a   Goldberg, Olivia ^a   Drogari, Euridiki ^c   Mollaki, Vasiliki ^c   Wiegman, Albert ^d   Defesche, Joep ^d   D'Agostino, Maria N ^e,f   D'Angelo, Antonietta ^e,f   Rubba, Paolo ^f   Fortunato, Giuliana ^e,f   Walus̈ Miarka, Małgorzata ^g   Hegele, Robert A ^h   Bamimore, Mary Aderayo ^h   Durst, Ronen ⁱ   Leitersdorf, Eran ⁱ   Mulder, Monique T ^j   Van Lennep, Jeanine E Roeters ^j   Sijbrands, Eric J G ^j   Whittaker, John C ^k,l   Talmud, Philippa J ^a   Humphries, Steve E ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^h ROBARTS RESEARCH INSTITUTE   (Canada)

ⁱ HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^j ERASMUS MEDICAL CENTER   (Netherlands)

^k LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^l GLAXOSMITHKLINE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER G5; ABC TRANSPORTER G8; APOLIPOPROTEIN B; APOLIPOPROTEIN E; CADHERIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; VASCULOTROPIN; PCSK9 PROTEIN, HUMAN; SERINE PROTEINASE;

ADULT; ARTICLE; CHILD; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE FREQUENCY; GENE REPLICATION; GENETIC RISK; GENETIC SELECTION; GENETIC VARIABILITY; HUMAN; HYPERCHOLESTEROLEMIA; MAJOR CLINICAL STUDY; MALE; META ANALYSIS (TOPIC); MULTIFACTORIAL INHERITANCE; MUTATION RATE; NEXT GENERATION SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ALLELE; BLOOD; CANADA; CASE CONTROL STUDY; COHORT ANALYSIS; EUROPE; GENETICS; ISRAEL; MIDDLE AGED; MUTATION; RECEIVER OPERATING CHARACTERISTIC; RISK FACTOR; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; APOLIPOPROTEINS B; CANADA; CASE-CONTROL STUDIES; CHILD; CHOLESTEROL, LDL; COHORT STUDIES; EUROPE; FEMALE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; ISRAEL; MALE; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPROTEIN CONVERTASES; RECEPTORS, LDL; RISK FACTORS; ROC CURVE; SERINE ENDOPEPTIDASES; YOUNG ADULT;

EID: 84920507510     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2014.231365     Document Type: Article

References (32)

1. Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168:1-14.
2. 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: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013;34:3478-90.
3. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991;303: 893-6.
4. Williams RR, Hunt SC, Schumacher MC, Hegele RA, Leppert MF, Ludwig EH, Hopkins PN. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6.
5. WHO. Familial hypercholesterolaemia (FH): report of a second WHO consultation: Geneva, 4 September 1998. Geneva: [WHO, Human Genetics Programme]; 1999. http://whqlibdoc.who.int/hq/1999/WHO-HGN-FH-CONS-99.2.pdf (Accessed December 2014). Document No. WHO/HGN/FH/CONS/99.2.
6. Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first5years of screening for familial hypercholesterolaemia in the netherlands. Lancet 2001;357:165-8.
7. Sivapalaratnam S, van Loendersloot LL, Hutten BA, Kastelein JJ, Trip MD, de Groot E. Long-term LDL-C lowering in heterozygous familial hypercholesterolemia normalizes carotid intima-media thickness. Atherosclerosis 2010;212:571-4.
8. Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008;337:a2423.
9. Neil HA, Hawkins MM, Durrington PN, Betteridge DJ, Capps NE, Humphries SE. Non-coronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: a prospective registry study. Atherosclerosis 2005;179: 293-7.
10. Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:a1095.
11. Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, 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 Lipidol 2011;5: S1-8.
12. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, Clifton PM, et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011;12:221-63.
13. Descamps OS, Tenoutasse S, Stephenne X, Gies I, Beauloye V, Lebrethon MC, et al. Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization. Atherosclerosis 2011;218:272-80.
14. Humphries SE. Guidelines for the identification and management of patients with familial hypercholesterolaemia (FH): are we coming to a consensus? Atheroscler Suppl 2011;12:217-20.
15. Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HA. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002;324:1303.
16. Nherera L, Marks D, Minhas R, Thorogood M, Humphries SE. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011;97:1175-81.
17. Ademi Z, Watts GF, Pang J, Sijbrands EJ, van Bockxmeer FM, O'Leary P, et al. Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolemia. J Clin Lipidol 2014;8:390-400.
18. Huijgen R, Kindt I, Defesche JC, Kastelein JJ. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur Heart J 2012;33:2325-30.
19. Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J [Epub ahead of print 2014 Feb 28].
20. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012;97:3956-64.
21. Datta BN, McDowell IF, Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol 2010;21: 366-71.
22. Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012;76:387-401.
23. Futema M, Whittall RA, Kiley A, Steel LK, Cooper JA, Badmus E, et al. Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. Atherosclerosis 2013;229:161-8.
24. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010;466:707-13.
25. Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenicfamilialhypercholesterolaemia:acase-control study. Lancet 2013;381:1293-301.
26. Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, et al. Development of sensitive and specific age-and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008;46:791-803.
27. Marks D, Thorogood M, Neil SM, Humphries SE, Neil HA. Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Medical Screen 2006;13:156-9.
28. Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Clin Genet 2010;77:572-80.
29. Marmot MG, Smith GD, Stansfeld S, Patel C, North F, Head J, et al. Health inequalities among British civil servants: the Whitehall II study. Lancet 1991;337: 1387-93.
30. Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M, et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 2014;51:537-44.
31. Tybjaerg-Hansen A, Humphries SE. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis 1992;96:91-107.
32. Heath KE, Humphries SE, Middleton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. Eur J Hum Genet 2001;9:244-52.