Rare loss-of-function variants reveal threshold and multifactorial inheritance of dextrocardia

被引:9
作者
Chen, Zhongzhong [1 ]
Gao, Yunqian [1 ,2 ]
Lu, Lei [3 ]
Li, Nan [4 ]
Liu, Pei [3 ]
Peng, Rui [1 ]
Liu, Lingling [1 ]
Huang, Hefeng [5 ]
Fu, Qihua [2 ]
Hong, Haifa [6 ]
Zhang, Jianguo [4 ]
Wang, Hongyan [1 ,3 ,7 ]
机构
[1] Fudan Univ, Obstet & Gynecol Hosp, Inst Reprod & Dev, State Key Lab Genet Engn, Shanghai 200011, Peoples R China
[2] Shanghai Jiao Tong Univ, Pediat Translat Med Inst, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200127, Peoples R China
[3] Fudan Univ, Inst Metab & Integrat Biol, Shanghai Key Lab Metab Remodeling & Hlth, Shanghai 200438, Peoples R China
[4] BGI Genom, Shenzhen 518083, Peoples R China
[5] Fudan Univ, Obstet & Gynecol Hosp, Shanghai 200090, Peoples R China
[6] Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Dept Cardiothorac Surg, Sch Med, Shanghai 200127, Peoples R China
[7] Fudan Univ, Childrens Hosp, Shanghai 201102, Peoples R China
基金
中国国家自然科学基金; 国家重点研发计划;
关键词
CONGENITAL HEART-DISEASE; GENETICS; GENES; CILIA;
D O I
10.1016/j.scib.2023.08.005
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
[No abstract available]
引用
收藏
页码:1993 / 1998
页数:6
相关论文
共 13 条
[1]   A global reference for human genetic variation [J].
Altshuler, David M. ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Donnelly, Peter ;
Eichler, Evan E. ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Green, Eric D. ;
Hurles, Matthew E. ;
Knoppers, Bartha M. ;
Korbel, Jan O. ;
Lander, Eric S. ;
Lee, Charles ;
Lehrach, Hans ;
Mardis, Elaine R. ;
Marth, Gabor T. ;
McVean, Gil A. ;
Nickerson, Deborah A. ;
Wang, Jun ;
Wilson, Richard K. ;
Boerwinkle, Eric ;
Doddapaneni, Harsha ;
Han, Yi ;
Korchina, Viktoriya ;
Kovar, Christie ;
Lee, Sandra ;
Muzny, Donna ;
Reid, Jeffrey G. ;
Zhu, Yiming ;
Chang, Yuqi ;
Feng, Qiang ;
Fang, Xiaodong ;
Guo, Xiaosen ;
Jian, Min ;
Jiang, Hui ;
Jin, Xin ;
Lan, Tianming ;
Li, Guoqing ;
Li, Jingxiang ;
Li, Yingrui ;
Liu, Shengmao ;
Liu, Xiao ;
Lu, Yao ;
Ma, Xuedi ;
Tang, Meifang ;
Wang, Bo .
NATURE, 2015, 526 (7571) :68-+
[2]   Advances in the Genetics of Congenital Heart Disease A Clinician's Guide [J].
Blue, Gillian M. ;
Kirk, Edwin P. ;
Giannoulatou, Eleni ;
Sholler, Gary F. ;
Dunwoodie, Sally L. ;
Harvey, Richard P. ;
Winlaw, David S. .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 69 (07) :860-870
[3]   A population-based study of cardiac malformations and outcomes associated with dextrocardia [J].
Bohun, Claudine M. ;
Potts, James E. ;
Casey, Brett M. ;
Sandor, George G. S. .
AMERICAN JOURNAL OF CARDIOLOGY, 2007, 100 (02) :305-309
[4]   An Expanded View of Complex Traits: From Polygenic to Omnigenic [J].
Boyle, Evan A. ;
Li, Yang I. ;
Pritchard, Jonathan K. .
CELL, 2017, 169 (07) :1177-1186
[5]   Threshold for neural tube defect risk by accumulated singleton loss-of-function variants [J].
Chen, Zhongzhong ;
Lei, Yunping ;
Zheng, Yufang ;
Aguiar-Pulido, Vanessa ;
Ross, M. Elizabeth ;
Peng, Rui ;
Jin, Li ;
Zhang, Ting ;
Finnell, Richard H. ;
Wang, Hongyan .
CELL RESEARCH, 2018, 28 (10) :1039-1041
[6]   Genetics of Congenital Heart Disease The Glass Half Empty [J].
Fahed, Akl C. ;
Gelb, Bruce D. ;
Seidman, J. G. ;
Seidman, Christine E. .
CIRCULATION RESEARCH, 2013, 112 (04) :707-720
[7]   Cilia and Ciliopathies in Congenital Heart Disease [J].
Klena, Nikolai T. ;
Gibbs, Brian C. ;
Lo, Cecilia W. .
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY, 2017, 9 (08)
[8]   Global genetic analysis in mice unveils central role for cilia in congenital heart disease [J].
Li, You ;
Klena, Nikolai T. ;
Gabriel, George C. ;
Liu, Xiaoqin ;
Kim, Andrew J. ;
Lemke, Kristi ;
Chen, Yu ;
Chatterjee, Bishwanath ;
Devine, William ;
Damerla, Rama Rao ;
Chang, Chienfu ;
Yagi, Hisato ;
San Agustin, Jovenal T. ;
Thahir, Mohamed ;
Anderton, Shane ;
Lawhead, Caroline ;
Vescovi, Anita ;
Pratt, Herbert ;
Morgan, Judy ;
Haynes, Leslie ;
Smith, Cynthia L. ;
Eppig, Janan T. ;
Reinholdt, Laura ;
Francis, Richard ;
Leatherbury, Linda ;
Ganapathiraju, Madhavi K. ;
Tobita, Kimimasa ;
Pazour, Gregory J. ;
Lo, Cecilia W. .
NATURE, 2015, 521 (7553) :520-U224
[9]   Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries [J].
Liu, Xuanyu ;
Chen, Wen ;
Li, Wenke ;
Priest, James R. ;
Fu, Yuanyuan ;
Pang, Kunjing ;
Ma, Baihui ;
Han, Bianmei ;
Liu, Xuewen ;
Hu, Shengshou ;
Zhou, Zhou .
CIRCULATION RESEARCH, 2020, 126 (07) :811-821
[10]   High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy [J].
Nakhleh, Nader ;
Francis, Richard ;
Giese, Rachel A. ;
Tian, Xin ;
Li, You ;
Zariwala, Maimoona A. ;
Yagi, Hisato ;
Khalifa, Omar ;
Kureshi, Safina ;
Chatterjee, Bishwanath ;
Sabol, Steven L. ;
Swisher, Matthew ;
Connelly, Patricia S. ;
Daniels, Mathew P. ;
Srinivasan, Ashok ;
Kuehl, Karen ;
Kravitz, Nadav ;
Burns, Kimberlie ;
Sami, Iman ;
Omran, Heymut ;
Barmada, Michael ;
Olivier, Kenneth ;
Chawla, Kunal K. ;
Leigh, Margaret ;
Jonas, Richard ;
Knowles, Michael ;
Leatherbury, Linda ;
Lo, Cecilia W. .
CIRCULATION, 2012, 125 (18) :2232-U164