Genetic factors associated with the predisposition to late onset Alzheimer's disease

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dc.contributor.authorDurmaz, Asude
dc.contributor.authorKumral, Emre
dc.contributor.authorDurmaz, Burak
dc.contributor.authorOnay, Huseyin
dc.contributor.authorAslan, Gulcin Itirli
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorPehlivan, Sacide
dc.contributor.authorOrman, Mehmet
dc.contributor.authorCogulu, Ozgur
dc.date.accessioned2019-10-27T09:42:25Z
dc.date.available2019-10-27T09:42:25Z
dc.date.issued2019
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground Alzheimer's disease is a progressive, irreversible neurodegenerative disorder characterized by loss of memory and cognitive skills. More than 90% of cases are sporadic and have later age of onset. Many studies have shown a genetic predisposition for late onset Alzheimer's disease (LOAD). The most studied genetic predisposition factor is apolipoprotein E gene besides other susceptibility genes involved in vascular pathologies, homocysteine metabolism, and neuronal growth and differentiation such as methylenetetrahydrofolate reductase (MTHFR), angiotensin-converting enzyme (ACE), APOB and brain derived neurotrophic factor (BDNF). Methods: In this study Factor V Leiden (G1691A) and H1299R, prothrombin G20210A, Factor XIII V34L, B-fibrinogen -455G > A, PAI-1 5G/4G, HPA1 b/a, MTHFR C677T, MTHFR A1298C, APOE, ACE I/D, BDNF C270T and G196A polymorphisms were evaluated in 100 LOAD patients and 100 age matched healthy controls. Results: APOE4 allele, MTHFR CCA1298C and BDNF TTC270T genotypes were significantly higher in LOAD patients compared to the control group (p < 0.001, p = 0.04, p = 0.03, respectively). There were no significant associations between other genotypes and allele frequencies. Mini-Mental State Examination (MMSE) scores and age at onset of the patients were also evaluated for each and combined genotypes. Age at onset was significantly lowered by about approximately 4 and 5 years in patients carrying BDNF TTC270T and MTHFR TTC677T genotypes, respectively. Conclusion: APOE, MTHFR A1298C and BDNF C270T polymorphisms may be associated with LOAD and BDNF and MTHFR alleles may play a role in the age at onset of the LOAD.en_US
dc.description.sponsorshipEge University Scientific Research Projects CoordinationEge University [2006-GHUM-001]en_US
dc.description.sponsorshipThis study is supported by Ege University Scientific Research Projects Coordination (Grant number 2006-GHUM-001).en_US
dc.identifier.doi10.1016/j.gene.2019.05.030en_US
dc.identifier.endpage215en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.pmid31102717en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage212en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2019.05.030
dc.identifier.urihttps://hdl.handle.net/11454/28773
dc.identifier.volume707en_US
dc.identifier.wosWOS:000471355900026en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofGeneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGenetic polymorphismen_US
dc.subjectMTHFRen_US
dc.subjectACEen_US
dc.subjectBDNFen_US
dc.subjectLate-onset Alzheimer's diseaseen_US
dc.titleGenetic factors associated with the predisposition to late onset Alzheimer's diseaseen_US
dc.typeArticleen_US

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