Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: An extreme genetics approach

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 381-387

  Versmissen, Jorie ^a   Oosterveer, Daniëlla M ^a   Yazdanpanah, Mojgan ^a   Dehghan, Abbas ^a   Hólm, Hilma ^b   Erdman, Jeanette ^c   Aulchenko, Yurii S ^a,d   Thorleifsson, Gudmar ^b   Schunkert, Heribert ^c   Huijgen, Roeland ^e   Vongpromek, Ranitha ^a   Uitterlinden, André G ^a   Defesche, Joep C ^e   Van Duijn, Cornelia M ^a   Mulder, Monique ^a   Dadd, Tony ^f   Karlsson, Hróbjartur D ^g   Ordovas, Jose ^h   Kindt, Iris ⁱ   Jarman, Amelia ^f   Hofman, Albert ^a   Van Vark Van Der Zee, Leonie ^a   Blommesteijn Touw, Adriana C ^a   Kwekkeboom, Jaap ^a   Liem, Anho H ^j   Van Der Ouderaa, Frans J ^k   Calandra, Sebastiano ^l   Bertolini, Stefano ^m   Averna, Maurizio ⁿ   Langslet, Gisle ^o   Ose, Leiv ^o   Ros, Emilio ^p,q   Almagro, Fátima ^r   De Leeuw, Peter W ^s   Civeira, Fernando ^t   Masana, Luis ^u   Pintó, Xavier ^v   Simoons, Maarten L ^a   Schinkel, Arend F L ^a   Green, Martin R ^f   Zwinderman, Aeilko H ^e   Johnson, Keith J ^w   Schaefer, Arne ^x   Neil, Andrew ^y   Witteman, Jacqueline C M ^a   Humphries, Steve E ^z   Kastelein, John J P ^e   Sijbrands, Eric J G ^a   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b DECODE GENETICS   (Iceland)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d NOVOSIBIRSK STATE UNIVERSITY   (Russian Federation)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f UNILEVER RESEARCH   (United Kingdom)

^g LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^h TUFTS UNIVERSITY   (United States)

ⁱ Stichting Opsporing Erfelijke Hypercholesterolemie (StOEH)   (Netherlands)

^j SINT FRANCISCUS GASTHUIS   (Netherlands)

^k LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^m UNIVERSITY OF GENOA   (Italy)

ⁿ UNIVERSITY OF PALERMO   (Italy)

^o OSLO UNIVERSITY HOSPITAL   (Norway)

^p HOSPITAL CLÍNIC   (Spain)

^q Instituto de Salud Carlos III   (Spain)

^r Hospital de Guipuzcoa   (Spain)

^s MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^t HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^u HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

^v HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^w Novartis Insitutes of Biomedical Research   (United States)

^x UNIVERSITY OF KIEL   (Germany)

^y UNIVERSITY OF OXFORD   (United Kingdom)

^z UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

AGED; ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; ISCHEMIC HEART DISEASE; ITALY; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; NORWAY; PRIORITY JOURNAL; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; ALLELE; CASE CONTROL STUDY; COMORBIDITY; COMPLICATION; CORONARY DISEASE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; MUTATION; ODDS RATIO; RISK; RISK FACTOR; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; CASE-CONTROL STUDIES; COMORBIDITY; CORONARY DISEASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; MUTATION; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, LDL; RISK; RISK FACTORS; YOUNG ADULT;

EID: 84938419270     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.101     Document Type: Article

References (28)

1. Rosamond W, Flegal K, Furie K et al.: Heart disease and stroke statistics-2008 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation 2008; 117: e25-146.
2. Peden JF, Farrall M: Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. Hum Mol Genet 2011; 20: R198-R205.
3. So HC, Gui AH, Cherny SS, Sham PC: Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol 2011; 35: 310-317.
4. Kathiresan S, Voight BF, Purcell S et al.: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 2009; 41: 334-341.
5. Schunkert H, Konig IR, Kathiresan S et al.: Large-scale association analysis identifies new susceptibility loci for coronary artery disease. Nat Genet 2011; 43: 333-338.
6. Rothman KJ, Greenland S: Causation and causal inference in epidemiology. Am J Public Health 2005; 95:Suppl 1 S144-S150.
7. Hobbs HH, Brown MS, Goldstein JL: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445-466.
8. McCarthy MI, Abecasis GR, Cardon LR et al.: Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9: 356-369.
9. Umans-Eckenhausen MA, Defesche JC, Scheerder RL, Cline F, Kastelein JJ: [Tracing of patients with familial hypercholesterolemia in the Netherlands]. Ned Tijdschr Geneeskd 1999; 143: 1157-1161.
10. Jansen AC, van Aalst-Cohen ES, Hutten BA, Buller HR, Kastelein JJ, Prins MH: Guidelines were developed for data collection from medical records for use in retrospective analyses. J Clin Epidemiol 2005; 58: 269-274.
11. Jansen AC, van Aalst-Cohen ES, Tanck MW et al.: The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Int Med 2004; 256: 482-490.
12. Hofman A, Breteler MM, van Duijn CM et al.: The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol 2009; 24: 553-572.
13. Helgadottir A, Thorleifsson G, Manolescu A et al.: A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007; 316: 1491-1493.
14. Erdmann J, Grosshennig A, Braund PS et al.: New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet 2009; 41: 280-282.
15. Purcell S, Neale B, Todd-Brown K et al.: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
16. Schwarzer G: The Meta Package. wwwcranr-projectorg/src/contrib/Descriptions/rmetahtml 2005.
17. Lumley T: The rmeta package. http://wwwcranr-projectorg/src/contrib/Descriptions/rmetahtml 2004.
18. Van Gestel S, Houwing-Duistermaat JJ, Adolfsson R, van Duijn CM, Van Broeckhoven C: Power of selective genotyping in genetic association analyses of quantitative traits. Behav Genet 2000; 30: 141-146.
19. Xing C, Xing G: Power of selective genotyping in genome-wide association studies of quantitative traits. BMC Proc 2009; 3(Suppl 7): S23.
20. Huang BE, Lin DY: Efficient association mapping of quantitative trait loci with selective genotyping. Am J Hum Genet 2007; 80: 567-576.
21. Plomin R, Haworth CM, Davis OS: Common disorders are quantitative traits. Nat Rev Genet 2009; 10: 872-878.
22. Huijgen R, Fouchier SW, Denoun M et al.: Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia. J Lipid Res 2012; 53: 979-983.
23. Blom DJ, Hala T, Bolognese M et al.: A 52-week placebo-controlled trial of evolocumab in hyperlipidemia. N Engl J Med 2014; 370: 1809-1819.
24. Cohen JC, Boerwinkle E, Mosley Jr TH, Hobbs HH: Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006; 354: 1264-1272.
25. Sjouke B, Kusters DM, Kastelein JJ, Hovingh GK: Familial hypercholesterolemia: present and future management. Curr Cardiol Rep 2011; 13: 527-536.
26. Ioannidis JP: Prediction of cardiovascular disease outcomes and established cardiovascular risk factors by genome-wide association markers. Circ Cardiovasc Genet 2009; 2: 7-15.
27. Devlin B, Roeder K: Genomic control for association studies. Biometrics 1999; 55: 997-1004.
28. Van der Net JB, Oosterveer DM, Versmissen J et al.: Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia. Eur Heart J 2008; 29: 2195-2201.