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.

No association between identified multiple sclerosis non-MHC risk loci and neuromyelitis optica

“…Few comprehensive analyses of the association between non-MHC loci and NMO have been reported. A genome-wide association study involving 53 Korean NMO patients and 240 controls found that a promoter SNP in CYP7A1 that encodes cytochrome P450 has a protective role in the risk of NMO [27] , which was replicated in our previous study [16] . Also, the allele of programmed death-1 was found to be associated with NMO [28] .…”

“…A total of 110 unrelated NMO patients ( [16] . Written informed consent was given by participants >18 years of age and guardians on the behalf of those <18 years old prior to inclusion.…”

Genome-wide association study of growth and body composition traits in Brangus beef cattle

“…Mb, respectively. CYP7A1 is involved in the synthesis of cholesterol, steroids, and other lipids and is associated with neuromyelitis optica (Zhao et al, 2013). SDCBP encodes protein that binds to a variety of transmembrane proteins.…”

Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population

“…All subjects were of Han Chinese descent and most participants originated from the association study reported previously (Zhao et al, 2013). MS patients were diagnosed according to the revised McDonald criteria (Polman et al, 2005) and the disability was evaluated by Expanded Disability Status Scale (EDSS).…”