Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica

Ho Jin Kim, Hyun Young Park, Eunkyung Kim, Kwang Soo Lee, Kwang Kuk Kim, Byung Ok Choi, Seung Min Kim, Joon Seol Bae, Soo Ok Lee, Ji Yong Chun, Tae Joon Park, Hyun Sub Cheong, Inho Jo, Hyoung Doo Shin

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


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).

Original languageEnglish
Pages (from-to)349-355
Number of pages7
JournalNeurobiology of Disease
Issue number2
StatePublished - Feb 2010

Bibliographical note

Funding Information:
This work was supported by grant number M1-0302-00-0073 from Korea Science and Engineering Foundation (KOSEF) funded by the Korea government (MEST) ( No. 2009-0080157 ); an Intramural Research Grant of the Korea National Institute of Health (grant number 4800-4845-300-260-00 ); and an Intramural Research Grant from Sogang University (grant number 200810021.01 ).


  • CYP7A1
  • Genome-wide association study
  • Korean population
  • Neuromyelitis optica
  • Promoter variant
  • Single-nucleotide polymorphism


Dive into the research topics of 'Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica'. Together they form a unique fingerprint.

Cite this