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Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

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Listed:
  • Yimin Sun

    (Medical Systems Biology Research Center, Tsinghua University School of Medicine
    The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University
    CapitalBio Corporation
    National Engineering Research Center for Beijing Biochip Technology)

  • Yongqing Huang

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

  • Aihua Yin

    (Medical Genetic Center, Guangdong Women and Children Hospital
    Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital
    Biobank of Guangdong Women and Children Hospital)

  • Yongchu Pan

    (Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
    Affiliated Hospital of Stomatology, Nanjing Medical University
    State Key Laboratory of Reproductive Medicine, Nanjing Medical University)

  • Yirui Wang

    (Medical Systems Biology Research Center, Tsinghua University School of Medicine
    CapitalBio Corporation
    National Engineering Research Center for Beijing Biochip Technology)

  • Cheng Wang

    (State Key Laboratory of Reproductive Medicine, Nanjing Medical University
    School of Public Health, Nanjing Medical University)

  • Yong Du

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

  • Meilin Wang

    (the Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University)

  • Feifei Lan

    (Medical Genetic Center, Guangdong Women and Children Hospital
    Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital
    Biobank of Guangdong Women and Children Hospital)

  • Zhibin Hu

    (State Key Laboratory of Reproductive Medicine, Nanjing Medical University
    School of Public Health, Nanjing Medical University)

  • Guoqing Wang

    (CapitalBio Corporation
    National Engineering Research Center for Beijing Biochip Technology)

  • Min Jiang

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

  • Junqing Ma

    (Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
    Affiliated Hospital of Stomatology, Nanjing Medical University)

  • Xiaozhuang Zhang

    (Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital)

  • Hongxia Ma

    (State Key Laboratory of Reproductive Medicine, Nanjing Medical University
    School of Public Health, Nanjing Medical University)

  • Jian Ma

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

  • Weibing Zhang

    (Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
    Affiliated Hospital of Stomatology, Nanjing Medical University)

  • Qun Huang

    (Guangdong Women and Children Hospital)

  • Zhongwei Zhou

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

  • Lan Ma

    (Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
    Affiliated Hospital of Stomatology, Nanjing Medical University)

  • Yadi Li

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

  • Hongbing Jiang

    (Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
    Affiliated Hospital of Stomatology, Nanjing Medical University)

  • Lan Xie

    (Medical Systems Biology Research Center, Tsinghua University School of Medicine)

  • Yuyang Jiang

    (The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University)

  • Bing Shi

    (The State Key Laboratory of Oral Diseases, Sichuan University
    West China College of Stomatology, Sichuan University)

  • Jing Cheng

    (Medical Systems Biology Research Center, Tsinghua University School of Medicine
    CapitalBio Corporation
    National Engineering Research Center for Beijing Biochip Technology)

  • Hongbing Shen

    (State Key Laboratory of Reproductive Medicine, Nanjing Medical University
    School of Public Health, Nanjing Medical University)

  • Lin Wang

    (Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University
    Affiliated Hospital of Stomatology, Nanjing Medical University
    State Key Laboratory of Reproductive Medicine, Nanjing Medical University)

  • Yinxue Yang

    (General Hospital of Ningxia Medical University
    National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia)

Abstract

Nonsyndromic cleft lip with or without a cleft palate (NSCL/P) is among the most common human congenital birth defects and imposes a substantial physical and financial burden on affected individuals. Here, we conduct a case–control-based GWAS followed by two rounds of replication; we include six independent cohorts from China to elucidate the genetic architecture of NSCL/P in Chinese populations. Using this combined analysis, we identify a new locus at 16p13.3 associated with NSCL/P: rs8049367 between CREBBP and ADCY9 (odds ratio=0.74, P=8.98 × 10−12). We confirm that the reported loci at 1q32.2, 10q25.3, 17p13.1 and 20q12 are also involved in NSCL/P development in Chinese populations. Our results provide additional evidence that the rs2235371-related haplotype at 1q32.2 could play a more important role than the previously identified causal variant rs642961 in Chinese populations. These findings provide information on the genetic basis and mechanisms of NSCL/P.

Suggested Citation

  • Yimin Sun & Yongqing Huang & Aihua Yin & Yongchu Pan & Yirui Wang & Cheng Wang & Yong Du & Meilin Wang & Feifei Lan & Zhibin Hu & Guoqing Wang & Min Jiang & Junqing Ma & Xiaozhuang Zhang & Hongxia Ma , 2015. "Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate," Nature Communications, Nature, vol. 6(1), pages 1-7, May.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7414
    DOI: 10.1038/ncomms7414
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