Molecular genetic studies of multiple sclerosis in the portuguese population.
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.
UMIB - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.
Andreia
A
Bettencourt
Ana
A
Martins da Silva
Paulo
P
Pinho E Costa
Berta
B
Martins Silva
D056726:Genetic Association Studies; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D011174:Portugal
D006680:HLA Antigens