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Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin

UnIGENe-IBMC, Univ. Porto

Maria do Carmo Costa

UnIGENe-IBMC, Univ. Porto

Maria Edite Rio

Serv. Neurol., Hosp. S. João, Porto

Maria José Sá

Serv. Neurol., Hosp. S. João, Porto

Marta Monteiro

Serv. Neurol., Hosp. S. João, Porto

Angela Valença

Serv. Neurol., Hosp. Força Aérea, Lisboa

Alfredo Sá

Serv. Neurol., Hosp. Dist. Sto. André, Leiria

José Dinis

Serv. Neurol., Hosp. Dist. Sta. Luzia, Viana do Castelo

José Figueiredo

Serv. Neurol., Hosp. S. Marcos, Braga

Luís Bigotte de Almeida

Serv. Neurol., Hosp. Garcia de Orta, Almada

António Valongueiro

Serv. Neurol., Hosp. Dist. Sta. Luzia, Viana do Castelo

Isabel Coelho

Serv. Neurol., Hosp. Dist. Sra. Oliveira, Guimarães

Maria Teresa Matamá

UnIGENe-IBMC, Univ. Porto

Jorge Pinto-Basto

UnIGENe-IBMC, Univ. Porto, Inst. Genét. Médica, Jacinto de Magalhães, Porto

Jorge Sequeiros

UnIGENe-IBMC, Univ. Porto, Dept. Est. Pop., ICBAS, Univ. Porto

Patrícia Maciel

UnIGENe-IBMC, Univ. Porto, Dept. Est. Pop., ICBAS, Univ. Porto, Esc. Ciências da Saúde e ICVS, Univ. Minho, Portugal, pmaciel{at}ecsaude.uminho.pt

Multiple sclerosis (MS) is a demyelinating disease that affects about one in 500 young Europeans. In order to test the previously proposed influence of the A PO E and SC A 2 loci on susceptibility to MS, we studied these loci in 243 Portuguese patients and 192 healthy controls and both parents of 92 patients. We did not detect any significant difference when A PO E and SC A 2 allele frequencies of cases and controls were compared, or when we compared cases with different forms of the disease. Disequilibrium of transmission was tested for both loci in the 92 trios, and we did not observe segregation distortion. To test the influence of the A PO E o4 and SC A 2 22 C AGs alleles on severity of disease, we compared age at onset and progression rate between groups with and without those alleles. We did not observe an association of the o4 or the 22 C AG s alleles with rate of progression in our total patient population; allele o4 was associated with increased rate of progression of MS in a subset of patients with less than 10 years of the disease. However, globally in the Portuguese population, the A PO E and SC A2 genes do not seem to be useful in the clinical context as prognostic markers of this disorder.

Key Words: allelic asso ciation • demyelinating disease • genetics • linkage disequilibrium • prognostic markers • spinocerebellar ataxia

Multiple Sclerosis, Vol. 10, No. 2, 153-157 (2004)
DOI: 10.1191/1352458504ms998oa


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