Multiple sclerosis（MS）and neuromyelitis optica（NMO）are common autoimmune demyelinating disorders of the central nervous system.The exact etiology of each remains unclear.CYP7A1was reported to be associated with NM...Multiple sclerosis（MS）and neuromyelitis optica（NMO）are common autoimmune demyelinating disorders of the central nervous system.The exact etiology of each remains unclear.CYP7A1was 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.展开更多
基金supported by grants from the National Natural Science Foundation of China (30911120488)a grant from the Canadian Institute of Health Research (CCI102935, Canada)+1 种基金a grant from the 2011 Young Core Fund of Fudan University (11L-28, China)a grant from Shanghai Key Laboratory of Signaling and Disease Research
文摘Multiple sclerosis（MS）and neuromyelitis optica（NMO）are common autoimmune demyelinating disorders of the central nervous system.The exact etiology of each remains unclear.CYP7A1was 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.
