Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
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DOI：
10.1038/ng.2637
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发表时间：
2013-07
期刊：
影响因子：
30.8
通讯作者：
Keavney, Bernard D.
中科院分区：
文献类型：
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作者：
Cordell, Heather J.;Bentham, Jamie;Topf, Ana;Zelenika, Diana;Heath, Simon;Mamasoula, Chrysovalanto;Cosgrove, Catherine;Blue, Gillian;Granados-Riveron, Javier;Setchfield, Kerry;Thornborough, Chris;Breckpot, Jeroen;Soemedi, Rachel;Martin, Ruairidh;Rahman, Thahira J.;Hall, Darroch;van Engelen, Klaartje;Moorman, Antoon F. M.;Zwinderman, Aelko H.;Barnett, Phil;Koopmann, Tamara T.;Adriaens, Michiel E.;Varro, Andras;George, Alfred L., Jr.;dos Remedios, Christobal;Bishopric, Nanette H.;Bezzina, Connie R.;O'Sullivan, John;Gewillig, Marc;Bu'Lock, Frances A.;Winlaw, David;Bhattacharya, Shoumo;Devriendt, Koen;Brook, J. David;Mulder, Barbara J. M.;Mital, Seema;Postma, Alex V.;Lathrop, G. Mark;Farrall, Martin;Goodship, Judith A.;Keavney, Bernard D.
我们对先天性心脏病（CHD）进行了一项全基因组关联研究（GWAS）。我们的发现队列包括1995例CHD病例和5159例对照，其中包含来自三种主要临床CHD类别（间隔缺损、梗阻性缺陷和发绀型缺陷）中的每一种的患者。当把所有CHD表型一起考虑时，没有区域达到全基因组显著关联。然而，在4号染色体4p16上一个邻近MSX1和STX18基因的区域，在发现队列（N = 340例病例）中与继发孔型房间隔缺损（ASD）的风险相关（P = 9.5×10⁻⁷），并且这在另外417例ASD病例和2520例对照中得到了重复验证（重复验证P = 5.0×10⁻⁵；重复队列中的比值比为1.40[95%置信区间1.19 - 1.65]；综合P = 2.6×10⁻¹⁰）。基因型约占ASD人群归因风险的9%。
We carried out a genome-wide association study (GWAS) of congenital heart disease (CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls, and included patients from each of the three major clinical CHD categories (septal, obstructive and cyanotic defects). When all CHD phenotypes were considered together, no regions achieved genome-wide significant association. However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P=9.5×10−7) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N=340 cases), and this was replicated in a further 417 ASD cases and 2520 controls (replication P=5.0×10−5; OR in replication cohort 1.40 [95% CI 1.19-1.65]; combined P=2.6×10−10). Genotype accounted for ~9% of the population attributable risk of ASD.
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影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
影响因子：
3.5
作者：
Soemedi R;Topf A;Wilson IJ;Darlay R;Rahman T;Glen E;Hall D;Huang N;Bentham J;Bhattacharya S;Cosgrove C;Brook JD;Granados-Riveron J;Setchfield K;Bu'lock F;Thornborough C;Devriendt K;Breckpot J;Hofbeck M;Lathrop M;Rauch A;Blue GM;Winlaw DS;Hurles M;Santibanez-Koref M;Cordell HJ;Goodship JA;Keavney BD
通讯作者：
Keavney BD
影响因子：
30.8
作者：
van den Boogaard, MJH;Dorland, M;van Amstel, HKP
通讯作者：
van Amstel, HKP
影响因子：
30.8
作者：
Barrett, Jeffrey C.;Lee, James C.;Lees, Charles W.;Prescott, Natalie J.;Anderson, Carl A.;Phillips, Anne;Wesley, Emma;Parnell, Kirstie;Zhang, Hu;Drummond, Hazel;Nimmo, Elaine R.;Massey, Dunecan;Blaszczyk, Kasia;Elliott, Timothy;Cotterill, Lynn;Dallal, Helen;Lobo, Alan J.;Mowat, Craig;Sanderson, Jeremy D.;Jewell, Derek P.;Newman, William G.;Edwards, Cathryn;Ahmad, Tariq;Mansfield, John C.;Satsangi, Jack;Parkes, Miles;Mathew, Christopher G.;Donnelly, Peter;Peltonen, Leena;Blackwell, Jenefer M.;Bramon, Elvira;Brown, Matthew A.;Casas, Juan P.;Corvin, Aiden;Craddock, Nicholas;Deloukas, Panos;Duncanson, Audrey;Jankowski, Janusz;Markus, Hugh S.;McCarthy, Mark I.;Palmer, Colin N. A.;Plomin, Robert;Rautanen, Anna;Sawcer, Stephen J.;Samani, Nilesh;Trembath, Richard C.;Viswanathan, Ananth C.;Wood, Nicholas;Spencer, Chris C. A.;Bellenguez, Celine;Davison, Daniel;Freeman, Colin;Strange, Amy;Langford, Cordelia;Hunt, Sarah E.;Edkins, Sarah;Gwilliam, Rhian;Blackburn, Hannah;Bumpstead, Suzannah J.;Dronov, Serge;Gillman, Matthew;Gray, Emma;Hammond, Naomi;Jayakumar, Alagurevathi;McCann, Owen T.;Liddle, Jennifer;Perez, Marc L.;Potter, Simon C.;Ravindrarajah, Radhi;Ricketts, Michelle;Waller, Matthew;Weston, Paul;Widaa, Sara;Whittaker, Pamela;Attwood, Antony P.;Stephens, Jonathan;Sambrook, Jennifer;Ouwehand, Willem H.;McArdle, Wendy L.;Ring, Susan M.;Strachan, David P.
通讯作者：
Strachan, David P.
影响因子：
30.8
作者：
通讯作者：
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