PMID- 24337176
OWN - NLM
STAT- MEDLINE
DCOM- 20140826
LR  - 20220409
IS  - 1791-3004 (Electronic)
IS  - 1791-2997 (Linking)
VI  - 9
IP  - 2
DP  - 2014 Feb
TI  - Association analysis of IL7R polymorphisms with inflammatory demyelinating 
      diseases.
PG  - 737-43
LID - 10.3892/mmr.2013.1863 [doi]
AB  - Multiple sclerosis (MS) and neuromyelitis optica (NMO), which are referred to as 
      inflammatory demyelinating diseases (IDDs), are autoimmune diseases affecting the 
      central nervous system. Interleukin‑7 receptor (IL7R) encodes for a receptor 
      protein that is important in the development of immune cells. Several studies 
      have reported significant associations between IL7R polymorphisms and MS. The aim 
      of the present study was to investigate a possible association between IL7R 
      polymorphisms and IDDs such as MS and NMO. Thirteen single nucleotide 
      polymorphisms (SNPs) were selected based on their linkage disequilibrium (LD), 
      minor allele frequency (MAF) and location, and were genotyped in 178 IDD patients 
      and 237 healthy controls. The association of SNPs with IDD risk was analyzed by 
      logistic regression. A meta‑analysis on the association between rs6897932 and the 
      risk of MS was also performed. Statistical analyses revealed that a common SNP, 
      rs6897932, was marginally associated with IDD in a recessive model (P=0.003, 
      Pcor.=0.03), which had shown significant associations with MS in previous 
      studies. The results replicated the significant association found between 
      rs6897932 and IDD. In addition, the meta‑analysis of rs6897932 clearly 
      demonstrates a higher magnitude of risk in Asian populations than in Caucasian 
      populations. Although there are certain limitations to our study, the results 
      indicate that the genetic variation of IL7R may be associated with IDDs such as 
      MS and NMO in the population studied.
FAU - Kim, Jason Yongha
AU  - Kim JY
AD  - Department of Life Science, Sogang University, Seoul 121742, Republic of Korea.
FAU - Cheong, Hyun Sub
AU  - Cheong HS
AD  - Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121742, Republic of 
      Korea.
FAU - Kim, Ho Jin
AU  - Kim HJ
AD  - Department of Neurology, National Cancer Center, Ilsandong‑gu, Gyeonggi‑do 
      410769, Republic of Korea.
FAU - Kim, Lyoung Hyo
AU  - Kim LH
AD  - Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121742, Republic of 
      Korea.
FAU - Namgoong, Suhg
AU  - Namgoong S
AD  - Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121742, Republic of 
      Korea.
FAU - Shin, Hyoung Doo
AU  - Shin HD
AD  - Department of Life Science, Sogang University, Seoul 121742, Republic of Korea.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20131213
PL  - Greece
TA  - Mol Med Rep
JT  - Molecular medicine reports
JID - 101475259
RN  - 0 (Receptors, Interleukin-7)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Demyelinating Diseases/*genetics/pathology
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Middle Aged
MH  - Multiple Sclerosis/*genetics/pathology
MH  - Neuromyelitis Optica/*genetics/pathology
MH  - Polymorphism, Single Nucleotide
MH  - Receptors, Interleukin-7/*genetics
EDAT- 2013/12/18 06:00
MHDA- 2014/08/27 06:00
CRDT- 2013/12/17 06:00
PHST- 2013/05/01 00:00 [received]
PHST- 2013/11/18 00:00 [accepted]
PHST- 2013/12/17 06:00 [entrez]
PHST- 2013/12/18 06:00 [pubmed]
PHST- 2014/08/27 06:00 [medline]
AID - 10.3892/mmr.2013.1863 [doi]
PST - ppublish
SO  - Mol Med Rep. 2014 Feb;9(2):737-43. doi: 10.3892/mmr.2013.1863. Epub 2013 Dec 13.