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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/096/04/0687-0693

    • Keywords

       

      nonsyndromic cleft lip with or without cleft palate; GLI3 gene; association study; risk variants.

    • Abstract

       

      Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect due to abnormal orofacial development. Previous studies report abnormal sonic hedgehog (SHH) signalling activity during NSCL/P pathogenesis and propose several genes in the SHH pathway as candidate risk genes. As such, we focussed on GLI3, a downstream modulator of the SHH pathway. In the present study,we genotyped 34 tag SNPs covering GLI3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified risk variants of GLI3 that are associated with NSCL/P susceptibility in a Chinese population. In particular, rs3801161 and its haplotypes rs3801161–rs7785287 displayed significant association with NSCL/Pand survived Bonferroni correction for multiple comparisons. The robustness of the association between GLI3 and NSCL/P is worth further examination in the future across different populations.

    • Author Affiliations

       

      YIRUI WANG1 2 3 YIMIN SUN1 2 3 4 YONGQING HUANG5 6 7 YONGCHU PAN8 BING SHI9 10 JIAN MA5 6 7 LAN MA8 FEIFEI LAN11 12 13 YUXI ZHOU2 3 JIAYU SHI14 JINFANG ZHU5 6 HONGBING JIANG8 LEI ZHANG2 3 XUE XIAO2 3 MIN JIANG6 7 AIHUA YIN11 12 13 LILI YU5 6 7 LIN WANG8 JING CHENG1 2 3 YINXUE YANG6 7

      1. Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, People’s Republic of China
      2. CapitalBio Corporation, Beijing 102206, People’s Republic of China
      3. National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, People’s Republic of China
      4. The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen 518055, People’s Republic of China
      5. Department ofOral and Maxillofacial Surgery, AffiliatedHospital of Stomatology, Ningxia Medical University,Yinchuan 750004, People’s Republic of China
      6. General Hospital of Ningxia Medical University, Yinchuan 750004, People’s Republic of China
      7. National Engineering Research Center for Beijing Biochip Technology, Sub-center in Ningxia, Yinchuan 750004, People’s Republic of China
      8. Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing 210029, People’s Republic of China
      9. The State Key Laboratory of Oral Diseases, Sichuan University, Chengdu 610041, People’s Republic of China
      10. West China College of Stomatology, Sichuan University, Chengdu 610041, People’s Republic of China
      11. Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou 511442, People’s Republic of China
      12. Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 511442, People’s Republic of China
      13. Biobank of Guangdong Women and Children Hospital, Guangzhou 511442, People’s Republic of China
      14. Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, Los Angeles, CA 90095, USA

    • Dates

       
      Published
      20 September 2017
      Manuscript received
      4 September 2016
      Manuscript revised
      20 November 2016
      Accepted
      22 November 2016

    • Supplementary Material

       

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