CYP7A1 启动子区域的变异与视神经脊髓炎有关，但与汉族人群的多发性硬化无关。
Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.
机构信息
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.
出版信息
Neurosci Bull. 2013 Oct;29(5):525-30. doi: 10.1007/s12264-013-1347-6. Epub 2013 Jun 5.
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.
摘要
多发性硬化症 (MS) 和视神经脊髓炎 (NMO) 是常见的中枢神经系统自身免疫性脱髓鞘疾病。每种疾病的确切病因仍不清楚。有报道称 CYP7A1 与韩国患者的 NMO 有关，但这尚未在其他人群中得到证实。在这项研究中，我们使用 Sanger 测序在汉族人群中的一组无关患者和对照中检测 CYP7A1 启动子区域的 SNP（129 例 MS；89 例 NMO；325 例对照）。在 CYP7A1 的 5'-UTR 中发现了两个已知的 SNP（-204A>C(rs3808607) 和 -469T>C(rs3824260)）和一个新的 SNP（-208G>C）。-204A>C 与 -469T>C 完全连锁，两者均与 NMO 相关，但与 MS 无关。结果表明 CYP7A1 等位基因与 NMO 有关。NMO 和 MS 有不同的遗传危险因素。这进一步支持了 MS 和 NMO 是不同疾病的新兴证据。
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