Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
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DOI：
10.1016/j.nbd.2009.10.013
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发表时间：
2010-02-01
影响因子：
6.1
通讯作者：
Shin, Hyoung Doo
中科院分区：
文献类型：
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作者：
Kim, Ho Jin;Park, Hyun-Young;Shin, Hyoung Doo
视神经肌萎缩症（NMO）是一种严重的中枢神经系统特发性炎症性疾病，主要影响视神经和脊髓。在这项研究中，我们从NMO患者和正常对照中产生了全基因组SNP数据，（53例和240例对照），并随访了来自大量炎性脱髓鞘疾病的样本的相关信号，包括NMO（n = 93），多发性硬化症（n = 93），（MS，n = 71）、特发性复发性横肌萎缩症（IRTM，n = 57）和正常对照（n = 240）。统计分析显示，CYP 7A 1中一个共同的启动子SNP对NMO风险具有保护性/基因剂量依赖性作用（P = 0.0004）。携带rs3808607“G/G”基因型的患者与携带“T/G”基因型的患者相比，变量之间的关联更强，随后对NMO风险的保护作用更高（OR更低）（OR = 0.38/P = 0.01 vs. OR = 0.12/P = 0.0004）。仅在NMO患者中观察到的相关性表明炎性脱髓鞘疾病（NMO、经典MS和IRTM）的遗传病因存在差异。(c)2009 Elsevier Inc.版权所有
Neuromyelitis optica (NMO) is a severe idiopathic inflammatory disease of the central nervous system primarily affecting the optic nerves and spinal cord. In this study, we generated genome-wide SNP data from NMO patients and normal controls (53 cases and 240 controls), and followed up on the association signals with samples from a larger number of inflammatory demyelinating diseases, including NMO (n = 93), multiple sclerosis (MS, n = 71), idiopathic recurrent transverse myelitis (IRTM, n = 57), and normal controls (n = 240). Statistical analyses revealed that a common promoter SNP in CYP7A1 has a protective/gene dose-dependent effect on the risk of NMO (P = 0.0004). A stronger association between the variables and subsequently, a higher protective effect (lower OR) on the risk of NMO were observed among patients carrying the "G/G" genotype of rs3808607 than those with the "T/G" genotype (OR = 0.38/P = 0.01 vs. OR = 0.12/P = 0.0004, respectively). The associations which were only observed in patients with NMO suggest that there are differences in the genetic etiology of the inflammatory demyelinating diseases (NMO, classical MS, and IRTM). (c) 2009 Elsevier Inc. All rights reserved