Literature DB >> 26283027

Association analysis identifies new risk loci for congenital heart disease in Chinese populations.

Yuan Lin1, Xuejiang Guo2, Bijun Zhao3, Juanjuan Liu2, Min Da4, Yang Wen1, Yuanli Hu4, Bixian Ni1, Kai Zhang1, Shiwei Yang5, Jing Xu6, Juncheng Dai7, Xiaowei Wang6, Yankai Xia8, Hongxia Ma7, Guangfu Jin7, Shiqiang Yu3, Jiayin Liu9, Bernard D Keavney10, Judith A Goodship11, Heather J Cordell11, Xinru Wang8, Hongbing Shen1, Jiahao Sha2, Zuomin Zhou2, Yijiang Chen6, Xuming Mo4, Lingfei Luo12, Zhibin Hu1.   

Abstract

Our previous genome-wide association study (GWAS) identified two susceptibility loci for congenital heart disease (CHD) in Han Chinese. Here we identify additional loci by testing promising associations in an extended 3-stage validation consisting of 6,053 CHD cases and 7,410 controls. We find GW significant (P<5.0 × 10(-8)) evidence of 4 additional CHD susceptibility loci at 4q31.22 (rs1400558, upstream of EDNRA, Pall=1.63 × 10(-9)), 9p24.2 (rs7863990, close to SMARCA2, Pall=3.71 × 10(-14)), 12q24.13 (rs2433752, upstream of TBX3 and TBX5, Pall=1.04 × 10(-10)) and 20q12 (rs490514, in PTPRT, Pall=1.20 × 10(-13)). Moreover, the data from previous European GWAS supports that rs490514 is associated with the risk of CHD (P=3.40 × 10(-3)). These results enhance our understanding of CHD susceptibility.

Entities:  

Mesh:

Year:  2015        PMID: 26283027     DOI: 10.1038/ncomms9082

Source DB:  PubMed          Journal:  Nat Commun        ISSN: 2041-1723            Impact factor:   14.919


  40 in total

1.  Formation of the building plan of the human heart: morphogenesis, growth, and differentiation.

Authors:  Aleksander Sizarov; Jing Ya; Bouke A de Boer; Wouter H Lamers; Vincent M Christoffels; Antoon F M Moorman
Journal:  Circulation       Date:  2011-03-15       Impact factor: 29.690

Review 2.  T-box factors determine cardiac design.

Authors:  W M H Hoogaars; P Barnett; A F M Moorman; V M Christoffels
Journal:  Cell Mol Life Sci       Date:  2007-03       Impact factor: 9.261

3.  Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1.

Authors:  Y Kurihara; H Kurihara; H Oda; K Maemura; R Nagai; T Ishikawa; Y Yazaki
Journal:  J Clin Invest       Date:  1995-07       Impact factor: 14.808

Review 4.  Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

Authors:  Mary Ella Pierpont; Craig T Basson; D Woodrow Benson; Bruce D Gelb; Therese M Giglia; Elizabeth Goldmuntz; Glenn McGee; Craig A Sable; Deepak Srivastava; Catherine L Webb
Journal:  Circulation       Date:  2007-05-22       Impact factor: 29.690

Review 5.  Appearances can be deceiving: phenotypes of knockout mice.

Authors:  Ivana Barbaric; Gaynor Miller; T Neil Dear
Journal:  Brief Funct Genomic Proteomic       Date:  2007-06-20

6.  Genetic analysis of the TBX3 gene promoter in ventricular septal defects.

Authors:  Dongfeng Chen; Yanli Qiao; Haihong Meng; Shuchao Pang; Wenhui Huang; Hongyu Zhang; Bo Yan
Journal:  Gene       Date:  2012-10-29       Impact factor: 3.688

7.  Structure of a tyrosine phosphatase adhesive interaction reveals a spacer-clamp mechanism.

Authors:  A Radu Aricescu; Christian Siebold; Kaushik Choudhuri; Veronica T Chang; Weixian Lu; Simon J Davis; P Anton van der Merwe; E Yvonne Jones
Journal:  Science       Date:  2007-08-31       Impact factor: 47.728

8.  Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

Authors:  Heather J Cordell; Ana Töpf; Chrysovalanto Mamasoula; Alex V Postma; Jamie Bentham; Diana Zelenika; Simon Heath; Gillian Blue; Catherine Cosgrove; Javier Granados Riveron; Rebecca Darlay; Rachel Soemedi; Ian J Wilson; Kristin L Ayers; Thahira J Rahman; Darroch Hall; Barbara J M Mulder; Aelko H Zwinderman; Klaartje van Engelen; J David Brook; Kerry Setchfield; Frances A Bu'Lock; Chris Thornborough; John O'Sullivan; A Graham Stuart; Jonathan Parsons; Shoumo Bhattacharya; David Winlaw; Seema Mital; Marc Gewillig; Jeroen Breckpot; Koen Devriendt; Antoon F M Moorman; Anita Rauch; G Mark Lathrop; Bernard D Keavney; Judith A Goodship
Journal:  Hum Mol Genet       Date:  2013-01-07       Impact factor: 6.150

9.  Chromatin remodelling complex dosage modulates transcription factor function in heart development.

Authors:  Jun K Takeuchi; Xin Lou; Jeffrey M Alexander; Hiroe Sugizaki; Paul Delgado-Olguín; Alisha K Holloway; Alessandro D Mori; John N Wylie; Chantilly Munson; Yonghong Zhu; Yu-Qing Zhou; Ru-Fang Yeh; R Mark Henkelman; Richard P Harvey; Daniel Metzger; Pierre Chambon; Didier Y R Stainier; Katherine S Pollard; Ian C Scott; Benoit G Bruneau
Journal:  Nat Commun       Date:  2011-02-08       Impact factor: 14.919

10.  Directed transdifferentiation of mouse mesoderm to heart tissue by defined factors.

Authors:  Jun K Takeuchi; Benoit G Bruneau
Journal:  Nature       Date:  2009-04-26       Impact factor: 49.962

View more
  13 in total

1.  Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Authors:  A J Agopian; Elizabeth Goldmuntz; Hakon Hakonarson; Anshuman Sewda; Deanne Taylor; Laura E Mitchell
Journal:  Circ Cardiovasc Genet       Date:  2017-06

2.  A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Authors:  Neil A Hanchard; Shanker Swaminathan; Kristine Bucasas; Dieter Furthner; Susan Fernbach; Mahshid S Azamian; Xueqing Wang; Mark Lewin; Jeffrey A Towbin; Lisa C A D'Alessandro; Shaine A Morris; William Dreyer; Susan Denfield; Nancy A Ayres; Wayne J Franklin; Henri Justino; M Regina Lantin-Hermoso; Elena C Ocampo; Alexia B Santos; Dhaval Parekh; Douglas Moodie; Aamir Jeewa; Emily Lawrence; Hugh D Allen; Daniel J Penny; Charles D Fraser; James R Lupski; Mojisola Popoola; Lalita Wadhwa; J David Brook; Frances A Bu'Lock; Shoumo Bhattacharya; Seema R Lalani; Gloria A Zender; Sara M Fitzgerald-Butt; Jessica Bowman; Don Corsmeier; Peter White; Kelsey Lecerf; Gladys Zapata; Patricia Hernandez; Judith A Goodship; Vidu Garg; Bernard D Keavney; Suzanne M Leal; Heather J Cordell; John W Belmont; Kim L McBride
Journal:  Hum Mol Genet       Date:  2016-03-09       Impact factor: 6.150

3.  Sex-specific association of SH2B3 and SMARCA4 polymorphisms with coronary artery disease susceptibility.

Authors:  Yuqiang Ji; Yanbin Song; Qingwen Wang; Pengcheng Xu; Zhao Zhao; Xia Li; Nan Wang; Tianbo Jin; Chao Chen
Journal:  Oncotarget       Date:  2017-07-31

Review 4.  Fiber-Type Solar Cells, Nanogenerators, Batteries, and Supercapacitors for Wearable Applications.

Authors:  Sreekanth J Varma; Kowsik Sambath Kumar; Sudipta Seal; Swaminathan Rajaraman; Jayan Thomas
Journal:  Adv Sci (Weinh)       Date:  2018-06-17       Impact factor: 16.806

5.  Congenital heart disease risk loci identified by genome-wide association study in European patients.

Authors:  Harald Lahm; Meiwen Jia; Martina Dreßen; Felix Wirth; Nazan Puluca; Ralf Gilsbach; Bernard D Keavney; Julie Cleuziou; Nicole Beck; Olga Bondareva; Elda Dzilic; Melchior Burri; Karl C König; Johannes A Ziegelmüller; Claudia Abou-Ajram; Irina Neb; Zhong Zhang; Stefanie A Doppler; Elisa Mastantuono; Peter Lichtner; Gertrud Eckstein; Jürgen Hörer; Peter Ewert; James R Priest; Lutz Hein; Rüdiger Lange; Thomas Meitinger; Heather J Cordell; Bertram Müller-Myhsok; Markus Krane
Journal:  J Clin Invest       Date:  2021-01-19       Impact factor: 14.808

6.  TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.

Authors:  Alexandra M Markunas; Perathu K R Manivannan; Jordan E Ezekian; Agnim Agarwal; William Eisner; Katherina Alsina; Hugh D Allen; Gregory A Wray; Jeffrey J Kim; Xander H T Wehrens; Andrew P Landstrom
Journal:  Am J Med Genet A       Date:  2020-12-23       Impact factor: 2.802

Review 7.  Genome-wide association studies of structural birth defects: A review and commentary.

Authors:  Philip J Lupo; Laura E Mitchell; Mary M Jenkins
Journal:  Birth Defects Res       Date:  2019-10-25       Impact factor: 2.661

8.  Human fetal heart specific coexpression network involves congenital heart disease/defect candidate genes.

Authors:  Bo Wang; Guoling You; Qihua Fu
Journal:  Sci Rep       Date:  2017-04-24       Impact factor: 4.379

9.  Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease.

Authors:  Ming Li; Chen Lyu; Manyan Huang; Catherine Do; Benjamin Tycko; Philip J Lupo; Stewart L MacLeod; Christopher E Randolph; Nianjun Liu; John S Witte; Charlotte A Hobbs
Journal:  BMC Genom Data       Date:  2021-06-10

Review 10.  Genomic frontiers in congenital heart disease.

Authors:  Sarah U Morton; Daniel Quiat; Jonathan G Seidman; Christine E Seidman
Journal:  Nat Rev Cardiol       Date:  2021-07-16       Impact factor: 49.421

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.