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Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
- Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
- Kim H.J.; Park H.-Y.; Kim E.; Lee K.-S.; Kim K.-K.; Choi B.-O.; Kim S.M.; Bae J.S.; Lee S.O.; Chun J.Y.; Park T.J.; Cheong H.S.; Jo I.; Shin H.D.
- Ewha Authors
- 최병옥; 조인호
- SCOPUS Author ID
- Issue Date
- Journal Title
- Neurobiology of Disease
- Neurobiology of Disease vol. 37, no. 2, pp. 349 - 355
- SCIE; SCOPUS
- Document Type
- 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). © 2009 Elsevier Inc. All rights reserved.
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