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Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Author

Listed:
  • Yanqin Yu

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University)

  • Xianbo Zuo

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Miao He

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University
    School and Hospital of Stomatology, Wuhan University)

  • Jinping Gao

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Yuchuan Fu

    (School and Hospital of Stomatology, Wuhan University)

  • Chuanqi Qin

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University
    School and Hospital of Stomatology, Wuhan University)

  • Liuyan Meng

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University)

  • Wenjun Wang

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Yaling Song

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University)

  • Yong Cheng

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University)

  • Fusheng Zhou

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Gang Chen

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Xiaodong Zheng

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Xinhuan Wang

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University)

  • Bo Liang

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Zhengwei Zhu

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Xiazhou Fu

    (College of Life Science, Wuhan University)

  • Yujun Sheng

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Jiebing Hao

    (The Second Charity Hospital of Henan Province)

  • Zhongyin Liu

    (Stomatological Hospital of Nanyang)

  • Hansong Yan

    (Stomatological Hospital of Xiangyang)

  • Elisabeth Mangold

    (Institute of Human Genetics, Life and Brain Center, University of Bonn)

  • Ingo Ruczinski

    (Bloomberg School of Public Health, Johns Hopkins University)

  • Jianjun Liu

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Mary L. Marazita

    (School of Dental Medicine, University of Pittsburgh
    Graduate School of Public Health, University of Pittsburgh
    Clinical and Translational Science, School of Medicine, University of Pittsburgh)

  • Kerstin U. Ludwig

    (Institute of Human Genetics, Life and Brain Center, University of Bonn
    Life and Brain Center, University of Bonn)

  • Terri H. Beaty

    (School of Public Health, Johns Hopkins University)

  • Xuejun Zhang

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Liangdan Sun

    (Anhui Medical University
    State Key Lab Incubation of Dermatology, Ministry of Science and Technology
    Key Lab of Dermatology, Ministry of Education
    Key Lab of Gene Resources Utilization for Severe Inherited Disorders)

  • Zhuan Bian

    (The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University)

Abstract

Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.

Suggested Citation

  • Yanqin Yu & Xianbo Zuo & Miao He & Jinping Gao & Yuchuan Fu & Chuanqi Qin & Liuyan Meng & Wenjun Wang & Yaling Song & Yong Cheng & Fusheng Zhou & Gang Chen & Xiaodong Zheng & Xinhuan Wang & Bo Liang &, 2017. "Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity," Nature Communications, Nature, vol. 8(1), pages 1-11, April.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms14364
    DOI: 10.1038/ncomms14364
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    Cited by:

    1. Tara N. Yankee & Sungryong Oh & Emma Wentworth Winchester & Andrea Wilderman & Kelsey Robinson & Tia Gordon & Jill A. Rosenfeld & Jennifer VanOudenhove & Daryl A. Scott & Elizabeth J. Leslie & Justin , 2023. "Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes," Nature Communications, Nature, vol. 14(1), pages 1-23, December.

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