PMID- 21543551
OWN - NLM
STAT- MEDLINE
DCOM- 20111121
LR  - 20110718
IS  - 1477-0970 (Electronic)
IS  - 1352-4585 (Linking)
VI  - 17
IP  - 8
DP  - 2011 Aug
TI  - Relevance of IL7R genotype and mRNA expression in Dutch patients with multiple 
      sclerosis.
PG  - 922-30
LID - 10.1177/1352458511402411 [doi]
AB  - BACKGROUND: The interleukin 7 receptor (IL7R) has been recognized as a 
      susceptibility gene for Multiple Sclerosis (MS). Analysis of rs6897932 (the most 
      strongly MS-associated single nucleotide polymorphism (SNP)), showed effects of 
      genotype on the relative expression of membrane-bound to total amount of IL7R 
      mRNA. OBJECTIVE: We assessed the relevance of IL7R on MS phenotype (including 
      clinical and magnetic resonance imaging (MRI) parameters) at DNA and mRNA level 
      in Dutch patients with MS. METHODS: The genotype of rs6897932 was analyzed in 697 
      patients with MS and 174 healthy controls. The relevance of genotype and 
      carriership of the C allele on MS phenotype (disease activity and severity, using 
      clinical and MRI parameters) was assessed. In addition, relative gene expression 
      of membrane-bound to total IL7R mRNA was analyzed with respect to disease 
      phenotype in a subgroup of 95 patients with early relapsing MS. RESULTS: In 
      particular, homozygosity for the risk allele is a risk factor for MS in our 
      population (OR(CC vs CT and TT) = 1.65 (95% CI: 1.18-2.30), two-sided p = 0.004). 
      However, no effect of genotype or the relative expression of membrane-bound IL7R 
      (presence of exon 6-7) to total amount of IL7R mRNA (presence of exon 4-5) was 
      found on MS phenotype. DISCUSSION: Homozygosity for the IL7R exon 6 rs6897932 C 
      allele is associated with a higher risk for MS in our Dutch population. No effect 
      was found of genotype or mRNA expression on disease phenotype.
FAU - Sombekke, M H
AU  - Sombekke MH
AD  - Department of Neurology, VU University Medical Center, Amsterdam, The 
      Netherlands. m.sombekke@vumc.nl
FAU - van der Voort, L F
AU  - van der Voort LF
FAU - Kragt, J J
AU  - Kragt JJ
FAU - Nielsen, J M
AU  - Nielsen JM
FAU - Guzel, H
AU  - Guzel H
FAU - Visser, A
AU  - Visser A
FAU - Oudejans, C B M
AU  - Oudejans CB
FAU - Crusius, J B A
AU  - Crusius JB
FAU - Pena, A Salvador
AU  - Pena AS
FAU - Vrenken, H
AU  - Vrenken H
FAU - Polman, C H
AU  - Polman CH
FAU - Killestein, J
AU  - Killestein J
LA  - eng
PT  - Journal Article
DEP - 20110504
PL  - England
TA  - Mult Scler
JT  - Multiple sclerosis (Houndmills, Basingstoke, England)
JID - 9509185
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptors, Interleukin-7)
SB  - IM
MH  - Alleles
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Multiple Sclerosis/*genetics
MH  - Netherlands
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single Nucleotide
MH  - RNA, Messenger/*analysis
MH  - Receptors, Interleukin-7/*genetics
EDAT- 2011/05/06 06:00
MHDA- 2011/12/13 00:00
CRDT- 2011/05/06 06:00
PHST- 2011/05/06 06:00 [entrez]
PHST- 2011/05/06 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
AID - 1352458511402411 [pii]
AID - 10.1177/1352458511402411 [doi]
PST - ppublish
SO  - Mult Scler. 2011 Aug;17(8):922-30. doi: 10.1177/1352458511402411. Epub 2011 May 
      4.