Molecular Genetic Studies of Multiple Sclerosis in the Portuguese Population

Authors

  • Andreia Bettencourt UMIB - Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto. Porto. Portugal.
  • Ana Martins da Silva Serviço de Neurologia. Centro hospitalar do Porto - Hospital Geral de Santo António. UMIB - Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto. Porto. Portugal.
  • Paulo Pinho e Costa Instituto Nacional de Saúde Ricardo Jorge. Porto. Portugal.
  • Berta Martins Silva UMIB - Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto. Porto. Portugal.

DOI:

https://doi.org/10.20344/amp.66

Abstract

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.

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Published

2012-08-30

How to Cite

1.
Bettencourt A, Martins da Silva A, Pinho e Costa P, Martins Silva B. Molecular Genetic Studies of Multiple Sclerosis in the Portuguese Population. Acta Med Port [Internet]. 2012 Aug. 30 [cited 2024 Nov. 23];25(4):224-30. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/66

Issue

Vol. 25 No. 4 (2012): July-August

Section

Review Articles

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