Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica

被引：44

作者：

Kim, Ho Jin ^{[2
]}

Park, Hyun-Young ^{[3
]}

Kim, Eunkyung ^{[3
]}

Lee, Kwang-Soo ^{[3
]}

Kim, Kwang-Kuk ^{[4
]}

Choi, Byung-Ok ^{[5
]}

Kim, Seung Min ^{[6
]}

Bae, Joon Seol ^{[1
]}

Lee, Soo Ok ^{[7
]}

Chun, Ji Yong ^{[1
]}

Park, Tae Joon ^{[1
]}

Cheong, Hyun Sub ^{[7
]}

Jo, Inho ^{[3
]}

Shin, Hyoung Doo ^{[1
,7
]}

机构：

[1] Sogang Univ, Dept Life Sci, Seoul 121742, South Korea

[2] Natl Canc Ctr, Dept Neurol, Goyang Si 410769, Gyeonggi Do, South Korea

[3] Natl Inst Hlth, Ctr Biomed Sci, Seoul 122701, South Korea

[4] Ulsan Coll Med, Asan Med Ctr, Dept Neurol, Seoul 138736, South Korea

[5] Ewha Womans Univ, Sch Med, Med Ctr, Dept Neurol, Seoul 110783, South Korea

[6] Yonsei Univ, Coll Med, Dept Neurol, Seoul 120752, South Korea

[7] SNP Genet Inc, Dept Genet Epidemiol, Seoul 153803, South Korea

来源：

NEUROBIOLOGY OF DISEASE | 2010年 / 37卷 / 02期

关键词：

Genome-wide association study; Neuromyelitis optica; CYP7A1; Promoter variant; Single-nucleotide polymorphism; Korean population; CHOLESTEROL 7-ALPHA-HYDROXYLASE CYP7A1; MULTIPLE-SCLEROSIS; GENETIC-POLYMORPHISM; MITOCHONDRIAL-DNA; DEVICS-DISEASE; DISEQUILIBRIUM; POPULATION; JAPANESE; ALLELES; CANCER;

D O I：

10.1016/j.nbd.2009.10.013

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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

引用

页码：349 / 355

页数：7

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