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

Yong-Biao Zhang (), Jintian Hu, Jiao Zhang, Xu Zhou, Xin Li, Chaohao Gu, Tun Liu, Yangchun Xie, Jiqiang Liu, Mingliang Gu, Panpan Wang, Tingting Wu, Jin Qian, Yue Wang, Xiaoqun Dong, Jun Yu and Qingguo Zhang ()
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Yong-Biao Zhang: Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences
Jintian Hu: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Jiao Zhang: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Xu Zhou: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Xin Li: Beijing Anzhen Hospital of the Capital University of Medical Sciences
Chaohao Gu: Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences
Tun Liu: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Yangchun Xie: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Jiqiang Liu: Beijing KPS biotechnology
Mingliang Gu: Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences
Panpan Wang: Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences
Tingting Wu: Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences
Jin Qian: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Yue Wang: Plastic Surgery Hospital, Chinese Academy of Medical Sciences
Xiaoqun Dong: College of Medicine, The University of Oklahoma Health Sciences Center
Jun Yu: Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences
Qingguo Zhang: Plastic Surgery Hospital, Chinese Academy of Medical Sciences

Nature Communications, 2016, vol. 7, issue 1, 1-9

Abstract: 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=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.

Date: 2016
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DOI: 10.1038/ncomms10605

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