PMID- 23079250
OWN - NLM
STAT- MEDLINE
DCOM- 20131122
LR  - 20121019
IS  - 1646-0758 (Electronic)
IS  - 0870-399X (Linking)
VI  - 25
IP  - 4
DP  - 2012 Jul-Aug
TI  - Molecular genetic studies of multiple sclerosis in the portuguese population.
PG  - 224-30
AB  - Multiple sclerosis (MS) is a chronic neuroinflammatory autoimmune disease 
      believed to arise from complex interactions of both environmental and genetic 
      factors. As in other complex diseases with autoimmune features, a genetic 
      association with the human leukocyte antigen (HLA) complex is well documented. 
      Association and genome-wide studies were performed in Portuguese patients with MS 
      over several years. Genes such as HLA-DRB1, HLA-A, HFE, TNFA, CTLA-4, PTPN22 and 
      ApoE were investigated. ApoE, PTPN22 1858T, CTLA-4 -318C, TNFA-308A, HFE C282Y 
      and TLR9 T-1237C polymorphisms were not shown to be associated with the 
      development of MS. The HLA-DRB1*15 allele was confirmed as the major genetic 
      marker for susceptibility to MS. The presence of HLA-A*02 and TNFA -238A alleles 
      decreased the risk of developing MS. Patients carrying the HFE C282Y variant seem 
      to have a worse prognosis. The HLA-DRB1*15 and PTPN22 1858T variants were 
      associated with a better outcome in this population.
FAU - Bettencourt, Andreia
AU  - Bettencourt A
AD  - UMIB - Instituto de Ciencias Biomedicas Abel Salazar, Universidade do Porto, 
      Porto, Portugal.
FAU - Martins da Silva, Ana
AU  - Martins da Silva A
FAU - Pinho E Costa, Paulo
AU  - Pinho E Costa P
FAU - Martins Silva, Berta
AU  - Martins Silva B
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20120831
PL  - Portugal
TA  - Acta Med Port
JT  - Acta medica portuguesa
JID - 7906803
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Genetic Association Studies
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Multiple Sclerosis/*genetics
MH  - Portugal
EDAT- 2012/10/20 06:00
MHDA- 2013/12/16 06:00
CRDT- 2012/10/20 06:00
PHST- 2012/02/03 00:00 [received]
PHST- 2012/07/13 00:00 [accepted]
PHST- 2012/10/20 06:00 [entrez]
PHST- 2012/10/20 06:00 [pubmed]
PHST- 2013/12/16 06:00 [medline]
PST - ppublish
SO  - Acta Med Port. 2012 Jul-Aug;25(4):224-30. Epub 2012 Aug 31.