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Role of RET and ko=PHOX2B gene polymorphisms in risk of Hirschsprung’s disease in Chinese population
  1. Xiaoping Miao1,*,
  2. Maria-Mercè Garcia-Barceló1,2,*,
  3. Man-ting So1,
  4. Thomas Yuk-Yu Leon1,
  5. Danny Ko-chun Lau1,
  6. Ting-Ting Liu1,
  7. Edwin Kin-Wai Chan1,
  8. Lawrence Chuen-Leung Lan1,
  9. Kenneth Kak-yuen Wong1,
  10. Vincent Chi-hang Lui1,
  11. Paul Kwong-hang Tam1,2
  1. 1Department of Surgery, Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China
  2. 2Genome Research Center, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China
  1. Correspondence to:
    Prof. Paul K H Tam
    Division of Paediatric Surgery, Department of Surgery, Queen Mary Hospital, Deputy Director of the Genome Research Centre, University of Hong Kong Medical Centre, Hong Kong, China;paultam{at}

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Hirschsprung’s disease (OMIM 142623) is a complex congenital disorder characterised by the absence of ganglion cells of the plexus myentericus and plexus submucosus in the variable lengths of the digestive tract.1,2 Aganglionosis is attributed to a defect of the enteric nervous system, in which ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development, resulting in failure to pass meconium, chronic severe constipation and colonic distention in the neonatal period.3 The receptor tyrosine kinase gene RET, which is expressed in neural crest cells during enteric neurogenesis and is required for normal development of the enteric nervous system, is the major susceptibility gene for Hirschsprung’s disease.4 There is growing evidence indicating that functional single nucleotide polymorphisms (SNPs) of RET could act as low susceptibility factors for Hirschsprung’s disease.5,6 In addition, PHOX2B encodes a transcription …

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  • * Both authors contributed equally to this work.

  • Competing interests: None declared.