Abstract
We examined the potential involvement of the polymorphism in intron 8 of the presenilin-1 (PSEN1) gene as a risk factor for Alzheimer disease (AD), both through independent effect and interaction with the apolipoprotein E (APOE) ε4 allele risk, in 85 patients and 90 controls. We found no significant differences in the distribution of PSEN1 genotype and allele frequency between both groups; and post stratification distribution with APOE ε4 allele. Age of onset suggests that this polymorphism influences AD progression.
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This work was funded by the Ministry of Higher Education, Scientific Research and Technology in Tunisia.
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Rassas, A.A., Fredj, S.H., Khiari, H.M. et al. No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population. J Neural Transm 120, 1355–1358 (2013). https://doi.org/10.1007/s00702-013-0985-1
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DOI: https://doi.org/10.1007/s00702-013-0985-1