Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia

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Zhang, Yong-Biao; Hu, Jintian; Zhang, Jiao; Zhou, Xu; Li, Xin; Gu, Chaohao; Liu, Tun; Xie, Yangchun; Liu, Jiqiang; Gu, Mingliang; Wang, Panpan; Wu, Tingting; Qian, Jin; Wang, Yue; Dong, Xiaoqun; Yu, Jun; Zhang, Qingguo
Abstract
Craniofacial microsomia (CFM) is a rare congenital anomaly that involves immature derivatives from the first and second pharyngeal arches. The genetic pathogenesis of CFM is still unclear. Here we interrogate 0.9 million genetic variants in 939 CFM cases and 2,012 controls from China. After genotyping of an additional 443 cases and 1,669 controls, we identify 8 significantly associated loci with the most significant SNP rs13089920 (logistic regression P 1⁄4 2.15 􏰁 10 􏰀 120) and 5 suggestive loci. The above 13 associated loci, harboured by candidates of ROBO1, GATA3, GBX2, FGF3, NRP2, EDNRB, SHROOM3, SEMA7A, PLCD3, KLF12 and EPAS1, are found to be enriched for genes involved in neural crest cell (NCC) development and vasculogenesis. We then perform whole-genome sequencing on 21 samples from the case cohort, and identify several novel loss-of-function mutations within the associated loci. Our results provide new insights into genetic background of craniofacial microsomia.
URI
http://hdl.handle.net/10342/8545
Date
2016-02-08
Citation:
APA:
Zhang, Yong-Biao, & Hu, Jintian, & Zhang, Jiao, & Zhou, Xu, & Li, Xin, & Gu, Chaohao, & Liu, Tun, & Xie, Yangchun, & Liu, Jiqiang, & Gu, Mingliang, & Wang, Panpan, & Wu, Tingting, & Qian, Jin, & Wang, Yue, & Dong, Xiaoqun, & Yu, Jun, & Zhang, Qingguo. (February 2016). Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. Nature Communications, (7:1), p.. Retrieved from http://hdl.handle.net/10342/8545

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MLA:
Zhang, Yong-Biao, and Hu, Jintian, and Zhang, Jiao, and Zhou, Xu, and Li, Xin, and Gu, Chaohao, and Liu, Tun, and Xie, Yangchun, and Liu, Jiqiang, and Gu, Mingliang, and Wang, Panpan, and Wu, Tingting, and Qian, Jin, and Wang, Yue, and Dong, Xiaoqun, and Yu, Jun, and Zhang, Qingguo. "Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia". Nature Communications. 7:1. (.), February 2016. August 17, 2022. http://hdl.handle.net/10342/8545.
Chicago:
Zhang, Yong-Biao and Hu, Jintian and Zhang, Jiao and Zhou, Xu and Li, Xin and Gu, Chaohao and Liu, Tun and Xie, Yangchun and Liu, Jiqiang and Gu, Mingliang and Wang, Panpan and Wu, Tingting and Qian, Jin and Wang, Yue and Dong, Xiaoqun and Yu, Jun and Zhang, Qingguo, "Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia," Nature Communications 7, no. 1 (February 2016), http://hdl.handle.net/10342/8545 (accessed August 17, 2022).
AMA:
Zhang, Yong-Biao, Hu, Jintian, Zhang, Jiao, Zhou, Xu, Li, Xin, Gu, Chaohao, Liu, Tun, Xie, Yangchun, Liu, Jiqiang, Gu, Mingliang, Wang, Panpan, Wu, Tingting, Qian, Jin, Wang, Yue, Dong, Xiaoqun, Yu, Jun, Zhang, Qingguo. Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. Nature Communications. February 2016; 7(1) . http://hdl.handle.net/10342/8545. Accessed August 17, 2022.
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