Neuroscience Bulletin

, Volume 29, Issue 5, pp 525–530

Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population

  • Gui-Xian Zhao
  • Ying Liu
  • Zhen-Xin Li
  • Chuan-Zhen Lv
  • Anthony Traboulsee
  • A. Dessa Sadovnick
  • Zhi-Ying Wu
Original Article


Multiple sclerosis (MS) and neuromyelitis optica (NMO) are common autoimmune demyelinating disorders of the central nervous system. The exact etiology of each remains unclear. CYP7A1 was reported to be associated with NMO in Korean patients, but this is yet to be confirmed in other populations. In this study, we used Sanger sequencing to detect SNPs in the promoter region of CYP7A1 in a population consisting of unrelated patients and controls from the Han Chinese population (129 MS; 89 NMO; 325 controls). Two known SNPs, −204A>C (rs3808607) and −469T>C (rs3824260), and a novel SNP (−208G>C) were identified in the 5′-UTR of CYP7A1. The −204A>C was in complete linkage with −469T>C and both were associated with NMO but not with MS. Results suggest that the CYP7A1 allele was associated with NMO. NMO and MS have different genetic risk factors. This further supports the emerging evidence that MS and NMO are distinct disorders.


multiple sclerosis neuromyelitis optica CYP7A1 association Chinese 


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Copyright information

© Shanghai Institutes for Biological Sciences, CAS and Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Gui-Xian Zhao
    • 1
    • 5
  • Ying Liu
    • 1
    • 2
  • Zhen-Xin Li
    • 1
  • Chuan-Zhen Lv
    • 1
  • Anthony Traboulsee
    • 3
  • A. Dessa Sadovnick
    • 3
    • 4
  • Zhi-Ying Wu
    • 1
  1. 1.Department of Neurology and Institute of Neurology, Huashan Hospital, Institute of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical CollegeFudan UniversityShanghaiChina
  2. 2.Department of Neurology and Institute of Neurology, First Affiliated HospitalFujian Medical UniversityFuzhouChina
  3. 3.Faculty of Medicine, Division of NeurologyUniversity of British ColumbiaVancouverCanada
  4. 4.Department of Medical GeneticsUniversity of British ColumbiaVancouverCanada
  5. 5.Shanghai Key Laboratory of Signaling and Disease ResearchShanghaiChina

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