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

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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
    Plastic Surgery Hospital, Chinese Academy of Medical Sciences)

  • Jintian Hu

    (Plastic Surgery Hospital, Chinese Academy of Medical Sciences)

  • Jiao Zhang

    (Plastic Surgery Hospital, Chinese Academy of Medical Sciences
    Brody School of Medicine, East Carolina University)

  • 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)

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.

Suggested Citation

  • 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 Y, 2016. "Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia," Nature Communications, Nature, vol. 7(1), pages 1-9, April.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms10605
    DOI: 10.1038/ncomms10605
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    Cited by:

    1. Meghana Pagadala & Timothy J. Sears & Victoria H. Wu & Eva Pérez-Guijarro & Hyo Kim & Andrea Castro & James V. Talwar & Cristian Gonzalez-Colin & Steven Cao & Benjamin J. Schmiedel & Shervin Goudarzi , 2023. "Germline modifiers of the tumor immune microenvironment implicate drivers of cancer risk and immunotherapy response," Nature Communications, Nature, vol. 14(1), pages 1-22, December.
    2. Ke Mao & Christelle Borel & Muhammad Ansar & Angad Jolly & Periklis Makrythanasis & Christine Froehlich & Justyna Iwaszkiewicz & Bingqing Wang & Xiaopeng Xu & Qiang Li & Xavier Blanc & Hao Zhu & Qi Ch, 2023. "FOXI3 pathogenic variants cause one form of craniofacial microsomia," Nature Communications, Nature, vol. 14(1), pages 1-16, December.

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