1Department of Neurology and Institute of Neurology, Huashan Hospital, Institute of Brain Science and State Key
Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai 200040, China
2Department of Neurology and Institute of Neurology, First Affi liated Hospital, Fujian Medical University, Fuzhou 350005, China
3Faculty of Medicine, Division of Neurology, University of British Columbia, Vancouver, Canada
4Department of Medical Genetics, University of British Columbia, Vancouver, Canada
5Shanghai Key Laboratory of Signaling and Disease Research, Shanghai 200040, China
#These authors contributed equally to this work.

Abstract 

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.

Keywords

multiple sclerosis; neuromyelitis optica; CYP7A1; association; Chinese

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