PMID- 31102717
OWN - NLM
STAT- MEDLINE
DCOM- 20190624
LR  - 20190624
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 707
DP  - 2019 Jul 30
TI  - Genetic factors associated with the predisposition to late onset Alzheimer's 
      disease.
PG  - 212-215
LID - S0378-1119(19)30493-7 [pii]
LID - 10.1016/j.gene.2019.05.030 [doi]
AB  - BACKGROUND: 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 CC(A1298C) and BDNF TT(C270T) 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 TT(C270T) and MTHFR 
      TT(C677T) 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.
CI  - Copyright (c) 2019 Elsevier B.V. All rights reserved.
FAU - Durmaz, Asude
AU  - Durmaz A
AD  - Ege University Medical Faculty Department of Medical Genetics, Izmir, Turkey. 
      Electronic address: asudealpman@gmail.com.
FAU - Kumral, Emre
AU  - Kumral E
AD  - Ege University Medical Faculty Department of Neurology, Izmir, Turkey.
FAU - Durmaz, Burak
AU  - Durmaz B
AD  - Ege University Medical Faculty Department of Medical Genetics, Izmir, Turkey.
FAU - Onay, Huseyin
AU  - Onay H
AD  - Ege University Medical Faculty Department of Medical Genetics, Izmir, Turkey.
FAU - Aslan, Gulcin Itirli
AU  - Aslan GI
AD  - Ege University Biotechnology Department, Izmir, Turkey.
FAU - Ozkinay, Ferda
AU  - Ozkinay F
AD  - Ege University Medical Faculty Department of Medical Genetics, Izmir, Turkey.
FAU - Pehlivan, Sacide
AU  - Pehlivan S
AD  - Istanbul University Medical Faculty Department of Medical Biology, Istanbul, 
      Turkey.
FAU - Orman, Mehmet
AU  - Orman M
AD  - Ege University Medical Faculty Department of Statistics, Izmir, Turkey.
FAU - Cogulu, Ozgur
AU  - Cogulu O
AD  - Ege University Medical Faculty Department of Medical Genetics, Izmir, Turkey.
LA  - eng
PT  - Journal Article
DEP - 20190515
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (ApoE protein, human)
RN  - 0 (Apolipoproteins E)
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 7171WSG8A2 (BDNF protein, human)
RN  - EC 1.5.1.20 (MTHFR protein, human)
RN  - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
SB  - IM
MH  - Age of Onset
MH  - Aged
MH  - Aged, 80 and over
MH  - Alzheimer Disease/*genetics
MH  - Apolipoproteins E/*genetics
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - Case-Control Studies
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - Genetic Variation
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Methylenetetrahydrofolate Reductase (NADPH2)/*genetics
MH  - Middle Aged
MH  - *Mutation
OTO - NOTNLM
OT  - ACE
OT  - BDNF
OT  - Genetic polymorphism
OT  - Late-onset Alzheimer's disease
OT  - MTHFR
EDAT- 2019/05/19 06:00
MHDA- 2019/06/25 06:00
CRDT- 2019/05/19 06:00
PHST- 2019/01/10 00:00 [received]
PHST- 2019/03/27 00:00 [revised]
PHST- 2019/05/13 00:00 [accepted]
PHST- 2019/05/19 06:00 [pubmed]
PHST- 2019/06/25 06:00 [medline]
PHST- 2019/05/19 06:00 [entrez]
AID - S0378-1119(19)30493-7 [pii]
AID - 10.1016/j.gene.2019.05.030 [doi]
PST - ppublish
SO  - Gene. 2019 Jul 30;707:212-215. doi: 10.1016/j.gene.2019.05.030. Epub 2019 May 15.