Integrated genomic analysis identifies novel low-frequency cis-regulatory variant rs2279658 associated with VSD risk in Chinese children

Integrated genomic analysis identifies novel low-frequency cis-regulatory variant rs2279658 associated with VSD risk in Chinese children

VSD combined with other cardiac or extracardiac malformations (defined as “complex VSD” by us) is one of the major causes of perinatal morbidity and mortality. Functional non-coding SNPs (cis-regulatory SNPs) have not been systematically studied in CHDs, including complex VSD. Here we report an exom...

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Bibliographic Details
Main Authors: Lihui Jin, Zhenyuan Han, Zhongli Jiang, Jieru Lu, Yizhuo Wu, Bingqian Yan, Weibin Zhang, Xuedong Lin, Lvyan Jiang, Pengjun Zhao, Kun Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
VSD
cis-regulatory SNP
rs2279658
exome-wide association analysis
in vitro cardiac differentiation
cis-regulatory region
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2022.1062403/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2022.1062403/full

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