Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest)

被引：63

作者：

Abdullah, K. G. ^{[2
]}

Li, L. ^{[2
,3
,4
]}

Shen, G. -Q. ^{[2
,3
,4
]}

Hu, Y. ^{[2
,3
,4
]}

Yang, Y. ^{[2
,3
,4
]}

MacKinlay, K. G. ^{[2
,3
]}

Topol, E. J. ^{[5
,6
]}

Wang, Q. K. ^{[1
,2
,3
,4
,7
]}

机构：

[1] Cleveland Clin, Ctr Cardiovasc Genet NE40, Lerner Res Inst, Lerner Coll Med, Cleveland, OH 44195 USA

[2] Cleveland Clin, Ctr Cardiovasc Genet, Lerner Res Inst, Cleveland, OH 44195 USA

[3] Cleveland Clin, Dept Mol Cardiol, Lerner Res Inst, Cleveland, OH 44195 USA

[4] Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44195 USA

[5] Scripps Hlth, Scripps Genom Med, La Jolla, CA USA

[6] Scripps Res Inst, La Jolla, CA 92037 USA

[7] Huazhong Univ Sci & Technol, Ctr Human Genome Res, Coll Life Sci & Technol, Key Lab Mol Biophys,Minst Educ, Wuhan 430074, Peoples R China

来源：

ANNALS OF HUMAN GENETICS | 2008年 / 72卷

关键词：

coronary artery disease (CAD); myocardial infarction (MI); single nucleotide polymorphism (SNP); 9p21; association study; haplotype analysis;

D O I：

10.1111/j.1469-1809.2008.00454.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) in a premature, familial CAD/MI population (GeneQuest). We performed a case-control analysis of the GeneQuest Caucasian population with 310 cases with premature CAD and MI (average age at onset of 40.3 +/- 5.1) and 560 non-CAD controls to determine if these SNPs are associated with risk of CAD using both the population-based and family-based association study designs. The four SNPs are significantly associated with premature and familial MI and CAD in the GeneQuest Caucasian population (allelic P = 6.61 x 10(-7) to 1.87 x 10(-8)). Sib-TDT analysis showed that three of the four SNPs could confer significant susceptibility to premature CAD and MI. These results indicate that the four SNPs on chromosome 9p21 are also associated with premature, familial CAD.

引用

页码：654 / 657

页数：4

共 10 条

[1] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[2] A common variant on chromosome 9p21 affects the risk of myocardial infarction [J].

Helgadottir, Anna ;

Thorleifsson, Gudmar ;

Manolescu, Andrei ;

Gretarsdottir, Solveig ;

Blondal, Thorarinn ;

Jonasdottir, Aslaug ;

Jonasdottir, Adalbjorg ;

Sigurdsson, Asgeir ;

Baker, Adam ;

Palsson, Arnar ;

Masson, Gisli ;

Gudbjartsson, Daniel F. ;

Magnusson, Kristinn P. ;

Andersen, Karl ;

Levey, Allan I. ;

Backman, Valgerdur M. ;

Matthiasdottir, Sigurborg ;

Jonsdottir, Thorbjorg ;

Palsson, Stefan ;

Einarsdottir, Helga ;

Gunnarsdottir, Steinunn ;

Gylfason, Arnaldur ;

Vaccarino, Viola ;

Hooper, W. Craig ;

Reilly, Muredach P. ;

Granger, Christopher B. ;

Austin, Harland ;

Rader, Daniel J. ;

Shah, Svati H. ;

Quyyumi, Arshed A. ;

Gulcher, Jeffrey R. ;

Thorgeirsson, Gudmundur ;

Thorsteinsdottir, Unnur ;

Kong, Augustine ;

Stefansson, Kari .

SCIENCE, 2007, 316 (5830) :1491-1493

[3] A common allele on chromosome 9 associated with coronary heart disease [J].

McPherson, Ruth ;

Pertsemlidis, Alexander ;

Kavaslar, Nihan ;

Stewart, Alexandre F. R. ;

Roberts, Robert ;

Cox, David R. ;

Hinds, David A. ;

Pennacchio, Len A. ;

Tybjaerg-Hansen, Anne ;

Folsom, Aaron R. ;

Boerwinkle, Eric ;

Hobbs, Helen H. ;

Cohen, Jonathan C. .

SCIENCE, 2007, 316 (5830) :1488-1491

[4] Genomewide association analysis of coronary artery disease [J].

Samani, Nilesh J. ;

Erdmann, Jeanette ;

Hall, Alistair S. ;

Hengstenberg, Christian ;

Mangino, Massimo ;

Mayer, Bjoern ;

Dixon, Richard J. ;

Meitinger, Thomas ;

Braund, Peter ;

Wichmann, H.-Erich ;

Barrett, Jennifer H. ;

Koenig, Inke R. ;

Stevens, Suzanne E. ;

Szymczak, Silke ;

Tregouet, David-Alexandre ;

Iles, Mark M. ;

Pahlke, Friedrich ;

Pollard, Helen ;

Lieb, Wolfgang ;

Cambien, Francois ;

Fischer, Marcus ;

Ouwehand, Willem ;

Blankenberg, Stefan ;

Balmforth, Anthony J. ;

Baessler, Andrea ;

Ball, Stephen G. ;

Strom, Tim M. ;

Braenne, Ingrid ;

Gieger, Christian ;

Deloukas, Panos ;

Tobin, Martin D. ;

Ziegler, Andreas ;

Thompson, John R. ;

Schunkert, Heribert .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (05) :443-453

[5] An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction [J].

Shen, Gong-Qing ;

Li, Lin ;

Girelli, Domenico ;

Seidelmann, Sara B. ;

Rao, Shaoqi ;

Fan, Chun ;

Park, Jeong Euy ;

Xi, Quansheng ;

Li, Jing ;

Hu, Ying ;

Olivieri, Oliviero ;

Marchant, Kandice ;

Barnard, John ;

Corrocher, Roberto ;

Elston, Robert ;

Cassano, June ;

Henderson, Susan ;

Hazen, Stanley L. ;

Plow, Edward F. ;

Topol, Eric J. ;

Wang, Qing K. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :780-791

[6]

SHEN GQ, 2007, ARTERIOSCLER THROMB

[7]

SHEN GQ, 2007, J HUM GENET

[8] Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness [J].

Van Eerdewegh, P ;

Little, RD ;

Dupuis, J ;

Del Mastro, RG ;

Falls, K ;

Simon, J ;

Torrey, D ;

Pandit, S ;

McKenny, J ;

Braunschweiger, K ;

Walsh, A ;

Liu, ZY ;

Hayward, B ;

Folz, C ;

Manning, SP ;

Bawa, A ;

Saracino, L ;

Thackston, M ;

Benchekroun, Y ;

Capparell, N ;

Wang, M ;

Adair, R ;

Feng, Y ;

Dubois, J ;

FitzGerald, MG ;

Huang, H ;

Gibson, R ;

Allen, KM ;

Pedan, A ;

Danzig, MR ;

Umland, SP ;

Egan, RW ;

Cuss, FM ;

Rorke, S ;

Clough, JB ;

Holloway, JW ;

Holgate, ST ;

Keith, TP .

NATURE, 2002, 418 (6896) :426-430

[9] Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis [J].

Wang, Q ;

Rao, SQ ;

Shen, GQ ;

Li, L ;

Moliterno, DJ ;

Newby, LK ;

Rogers, WJ ;

Cannata, R ;

Zirzow, E ;

Elston, RC ;

Topol, EJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (02) :262-271

[10] A susceptibility locus for migraine with aura, on chromosome 4q24 [J].

Wessman, M ;

Kallela, M ;

Kaunisto, MA ;

Marttila, P ;

Sobel, E ;

Hartiala, J ;

Oswell, G ;

Leal, SM ;

Papp, JC ;

Hämäläinen, E ;

Broas, P ;

Joslyn, G ;

Hovatta, I ;

Hiekkalinna, T ;

Kaprio, J ;

Ott, J ;

Cantor, RM ;

Zwart, JA ;

Ilmavirta, M ;

Havanka, H ;

Färkkilä, M ;

Peltonen, L ;

Palotie, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :652-662

← 1 →