title: Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.
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.
authors.affiliation: Department 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.
authors.forename: Gui-Xian
authors.initials: GX
authors.lastname: Zhao
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Zhen-Xin
authors.initials: ZX
authors.lastname: Li
authors.forename: Chuan-Zhen
authors.initials: CZ
authors.lastname: Lv
authors.forename: Anthony
authors.initials: A
authors.lastname: Traboulsee
authors.forename: A Dessa
authors.initials: AD
authors.lastname: Sadovnick
authors.forename: Zhi-Ying
authors.initials: ZY
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002790:Cholesterol 7-alpha-Hydroxylase / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D009471:Neuromyelitis Optica / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C553219:CYP7A1 protein, human; D002790:Cholesterol 7-alpha-Hydroxylase