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Vztah polymorfismů v genech pro ApoE a ACE k Alzheimerově chorobě
Title in English | THE ASSOCIATION OF POLYMORPHISMS IN THE APOE AND ACE GENES FOR ALZHEIMER DISEASE |
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Authors | |
Year of publication | 2013 |
Type | Article in Proceedings |
Conference | XV. celostátní konference biologické psychiatrie s mezinárodní účastí v Luhačovicích |
MU Faculty or unit | |
Citation | |
Field | Genetics and molecular biology |
Keywords | Alzheimer’s disease; Abeta protein; apolipoprotein E; angiotensin converting enzyme (ACE); polymorphism |
Description | Alzheimer disease (AD) is a progressive neurodegenerative disease.In this pathogenesis plays an important role lipid metabolism in which is involved apolipoprotein E. ApoE mRNA are also found in brain tissue, where it is synthesized by astrocytes and microglia. ApoE is participate in the growth and regeneration of neurons and affects synaptic plasticity. The ApoE gene is located at the 19 chromosome. There are known two single nucleotide polymorphism, which encoding three isoforms ApoE2, ApoE3 and ApoE4. ApoE4 allele significantly increases the risk of AD, which is associated with an increased amount of cholesterol in the brain tissue, which also increases the production of Abeta protein. In our study, we confirmed the risk of Alzheimer disease associated with the ApoE4 allele (RR= 2.1098, OR= 2.4632, p= 0,00000002). The development of AD may also contribute to I / D polymorphism of the ACE gene. ACE is also involved in Abeta protein degradation. In our sample we found no statistically significant difference in allelic and genotypic frequencies. |
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