PMID- 12825072
OWN - NLM
STAT- MEDLINE
DCOM- 20040322
LR  - 20221207
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 11
IP  - 7
DP  - 2003 Jul
TI  - Identification of 11 novel and common single nucleotide polymorphisms in the 
      interleukin-7 receptor-alpha gene and their associations with multiple sclerosis.
PG  - 509-15
AB  - We have investigated the interleukin-7 receptor (IL-7R) alpha-chain gene as a 
      positional and functional candidate gene for susceptibility to multiple sclerosis 
      (MS), in view of its chromosomal location on 5p14-p12, a region that has shown 
      suggestive linkage in MS genome screens, and its role in T- and B-cell 
      proliferation and reactivity. Amplification and DNA sequencing of the IL-7Ralpha 
      gene in pooled and individual samples identified 13 single nucleotide 
      polymorphisms (SNPs), 11 of which are novel, including three in the promoter 
      region, three in exons encoding amino-acid changes (ACC(Thr)66ATC(Ile), 
      ATC(Ile)244ACC(Thr), ATC(Ile)336GTC(Val)), four in introns and one in the 3' 
      untranslated region. Four IL-7R haplotypes were identified for nine SNPs, showing 
      linkage disequilibrium across the gene, and allowing haplotype frequency 
      determination from just three of the nine SNPs. Genotyping of the -504 
      polymorphism in 101 MS and 90 controls showed a suggestive (P=0.1) association of 
      the T allele with MS; however, this was not supported by transmission 
      disequilibrium testing in 186 MS trio families (P=0.8). There were trends towards 
      an increase of the GTG+ haplotype (odds ratio=1.45), and under-representation of 
      the TTA+ haplotype (OR=0.65) in DRB1*1501-positive MS cases, suggesting that 
      larger sample sizes and comparison in more defined MS patient groups may support 
      an association with the IL-7R gene. These polymorphisms would also be useful for 
      studying genetic associations with other immunologic diseases.
FAU - Teutsch, Suzy M
AU  - Teutsch SM
AD  - Institute for Immunology and Allergy Research (Westmead Millennium Institute), 
      Westmead Hospital, Westmead, NSW 2145, Australia. suzyt@westgate.wh.usyd.edu.au
FAU - Booth, David R
AU  - Booth DR
FAU - Bennetts, Bruce H
AU  - Bennetts BH
FAU - Heard, Robert N S
AU  - Heard RN
FAU - Stewart, Graeme J
AU  - Stewart GJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Receptors, Interleukin-7)
RN  - 0 (interleukin-7 receptor, alpha chain)
SB  - IM
MH  - Australia/epidemiology
MH  - Gene Frequency
MH  - Humans
MH  - Multiple Sclerosis/*genetics
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - Receptors, Interleukin-7/*genetics
MH  - White People/genetics
EDAT- 2003/06/26 05:00
MHDA- 2004/03/23 05:00
CRDT- 2003/06/26 05:00
PHST- 2003/06/26 05:00 [pubmed]
PHST- 2004/03/23 05:00 [medline]
PHST- 2003/06/26 05:00 [entrez]
AID - 5200994 [pii]
AID - 10.1038/sj.ejhg.5200994 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2003 Jul;11(7):509-15. doi: 10.1038/sj.ejhg.5200994.