View : 16 Download: 0

Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica

Title
Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica
Authors
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
최병옥조인호
SCOPUS Author ID
조인호scopus
Issue Date
2010
Journal Title
Neurobiology of Disease
ISSN
0969-9961JCR Link
Citation
vol. 37, no. 2, pp. 349 - 355
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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.
DOI
10.1016/j.nbd.2009.10.013
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE