PMID- 18461312
OWN - NLM
STAT- MEDLINE
DCOM- 20080826
LR  - 20211020
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 60
IP  - 6
DP  - 2008 Jun
TI  - The immunogenetics of multiple sclerosis.
PG  - 275-86
LID - 10.1007/s00251-008-0295-1 [doi]
AB  - The discoveries in the 1970s of strong associations between various diseases and 
      certain human leukocyte antigen (HLA) factors were a revolution within genetic 
      epidemiology in the last century by demonstrating for the first time how genetic 
      markers can help unravel the genetics of disorders with complex genetic 
      backgrounds. HLA controls immune response genes and HLA associations indicate the 
      involvement of autoimmunity. Multiple sclerosis (MS) was one of the first 
      conditions proven to be HLA associated involving primarily HLA class II factors. 
      We review how HLA studies give fundamental information on the genetics of the 
      susceptibility to MS, on the importance of linkage disequilibrium in association 
      studies, and on the pathogenesis of MS. The HLA-DRB1*1501 molecule may explain 
      about 50% of MS cases and its role in the pathogenesis is supported by studies of 
      transgenic mice. Studies of polymorphic non-HLA genetic markers are discussed 
      based on linkage studies and candidate gene approaches including complete genome 
      scans. No other markers have so far rivaled the importance of HLA in the genetic 
      susceptibility to MS. Recently, large international collaborations provided 
      strong evidence for the involvement of polymorphism of two cytokine receptor 
      genes in the pathogenesis of MS: the interleukin 7 receptor alpha chain gene 
      (IL7RA) on chromosome 5p13 and the interleukin 2 receptor alpha chain gene (IL2RA 
      (=CD25)) on chromosome 10p15. It is estimated that the C allele of a single 
      nucleotide polymorphism, rs6897932, within the alternative spliced exon 6 of 
      IL7RA is involved in about 30% of MS cases.
FAU - Svejgaard, Arne
AU  - Svejgaard A
AD  - Department of Clinical Immunology, Section 7631, University Hospital of 
      Copenhagen, Blegdamsvej 9, DK-2100, Copenhagen, Denmark. arnesvej@post4.tele.dk
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20080507
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DR2 Antigen)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Receptors, Interleukin-7)
SB  - IM
MH  - Animals
MH  - Diabetes Mellitus, Type 1/immunology
MH  - Disease Models, Animal
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA-DQ Antigens/genetics
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/genetics
MH  - HLA-DR2 Antigen/genetics
MH  - HLA-DRB1 Chains
MH  - Humans
MH  - Multiple Sclerosis/*genetics/*immunology
MH  - Polymorphism, Single Nucleotide
MH  - Receptors, Interleukin-7/genetics
RF  - 85
EDAT- 2008/05/08 09:00
MHDA- 2008/08/30 09:00
CRDT- 2008/05/08 09:00
PHST- 2008/03/27 00:00 [received]
PHST- 2008/03/31 00:00 [accepted]
PHST- 2008/05/08 09:00 [pubmed]
PHST- 2008/08/30 09:00 [medline]
PHST- 2008/05/08 09:00 [entrez]
AID - 10.1007/s00251-008-0295-1 [doi]
PST - ppublish
SO  - Immunogenetics. 2008 Jun;60(6):275-86. doi: 10.1007/s00251-008-0295-1. Epub 2008 
      May 7.