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

Prova tipográfica (In Press)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 APOE and SCA2 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 APOE and SCA2 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 APOE o4 and SCA2 22 CAGs 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 CAGs 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 APOE and SCA2 genes do not seem to be useful in the clinical context as prognostic markers of this disorder.Fundação para a Ciência e a Tecnologia (FCT) - grant SFRH/BD/9111/2002.Serono Portugal

Impact of the birth’s season on the development of celiac disease in Italy

Celiac disease (CD) is an immune-mediated systemic disorder induced by a trigger factor in genetically susceptible individuals. There is emerging evidence about the impact of the month of birth on the development of several autoimmune diseases. Our aim was to investigate whether, in Italian CD children, the season of birth is associated with development of CD later in life. We report a survey conducted at two Italian referral centers for CD in Rome and Bari. The CD database was created to enable retrospective examination of the data of all the consecutive patients, born between 2003 and 2010, who had received a diagnosis of CD. This CD patient group comprising 596 children was compared with a reference group that included all subjects born in the same period and in the same cities (439,990 controls). Overall, there was a summer birth preponderance in CD patients compared to controls (28.2 % of CD patients vs 23.0 % of the control population; OR 1.315; 95 % CI 1.100 to 1.572). Stratifying the caseload by gender and age, the summer birth preponderance was maintained for females (28.6 % CD females vs 22.6 % control females; OR 1.368; 95 % CI 1.069 to 1.750)