scholarly journals Predictive Utility of Apolipoprotein E Genotype for Alzheimer Disease in Outpatients With Mild Cognitive Impairment

2005 ◽  
Vol 62 (6) ◽  
Author(s):  
D. P. Devanand ◽  
Gregory H. Pelton ◽  
Diana Zamora ◽  
Xinhua Liu ◽  
Matthias H. Tabert ◽  
...  
2021 ◽  
pp. 1-15
Author(s):  
Sung Hoon Kang ◽  
Bo Kyoung Cheon ◽  
Ji-Sun Kim ◽  
Hyemin Jang ◽  
Hee Jin Kim ◽  
...  

Background: Amyloid (Aβ) evaluation in amnestic mild cognitive impairment (aMCI) patients is important for predicting conversion to Alzheimer’s disease. However, Aβ evaluation through amyloid positron emission tomography (PET) is limited due to high cost and safety issues. Objective: We therefore aimed to develop and validate prediction models of Aβ positivity for aMCI using optimal interpretable machine learning (ML) approaches utilizing multimodal markers. Methods: We recruited 529 aMCI patients from multiple centers who underwent Aβ PET. We trained ML algorithms using a training cohort (324 aMCI from Samsung medical center) with two-phase modelling: model 1 included age, gender, education, diabetes, hypertension, apolipoprotein E genotype, and neuropsychological test scores; model 2 included the same variables as model 1 with additional MRI features. We used four-fold cross-validation during the modelling and evaluated the models on an external validation cohort (187 aMCI from the other centers). Results: Model 1 showed good accuracy (area under the receiver operating characteristic curve [AUROC] 0.837) in cross-validation, and fair accuracy (AUROC 0.765) in external validation. Model 2 led to improvement in the prediction performance with good accuracy (AUROC 0.892) in cross validation compared to model 1. Apolipoprotein E genotype, delayed recall task scores, and interaction between cortical thickness in the temporal region and hippocampal volume were the most important predictors of Aβ positivity. Conclusion: Our results suggest that ML models are effective in predicting Aβ positivity at the individual level and could help the biomarker-guided diagnosis of prodromal AD.


2014 ◽  
Vol 15 (4) ◽  
pp. 422-427 ◽  
Author(s):  
Takehiko Doi ◽  
Hiroyuki Shimada ◽  
Hyuma Makizako ◽  
Kota Tsutsumimoto ◽  
Kazuki Uemura ◽  
...  

2011 ◽  
Vol 25 (6) ◽  
pp. 679-689 ◽  
Author(s):  
Charles J. Brainerd ◽  
Valerie F. Reyna ◽  
Ronald C. Petersen ◽  
Glenn E. Smith ◽  
Emily S. Taub

Psichologija ◽  
2012 ◽  
Vol 46 ◽  
pp. 123-134
Author(s):  
Laura Sapranavičiūtė ◽  
Abdonas Tamošiūnas

Senėjimo problemos kontekste pažintinių gebėjimų prastėjimas tampa vis aktualesnė tema. Yra duomenų, kad APOE ɛ4 genotipas prognozuoja prastesnius pažintinius gebėjimus. Taigi, kyla poreikis išsiaiškinti, kurie pažintinių gebėjimų komponentai ir jų pokyčiai siejasi su APOE ɛ4 genotipu. Šio straipsnio tikslas – sisteminės analizės metodu apžvelgti mokslinius tyrimus, analizavusius pažintinių gebėjimų ir APOE ɛ4 genotipo sąsajas.Ankstesnių tyrimų rezultatai atskleidžia, kad turintieji APOE ɛ4 alelį pasižymi prastesniais pažintiniais gebėjimais, palyginti su asmenimis, neturinčiais APOE ɛ4. Dauguma tyrimų įrodo, kad APOE ɛ4 genotipas susijęs su prastesne atmintimi ir vykdomosios funkcijos rezultatais. Kiek rečiau aptinkami APOE ɛ4 ir dėmesio ryšiai. O verbaliniai ir samprotavimo gebėjimai su šio geno polimorfizmu dažniausiai nesiejami. Manoma, kad APOE ɛ4 genotipas gali turėti įtakos pažintinių gebėjimų prastėjimui, tačiau lieka neaiški šio geno polimorfizmo įtaka pažintinių gebėjimų prastėjimui, pasireiškus Alzheimerio ligai.Taigi, APOE ɛ4 genotipas gali būti rizikos veiksnys, susijęs tiek su natūraliu, tiek su patologiniu pažintinių gebėjimų prastėjimu. Tačiau tolesni APOE ɛ4 genotipo ir pažintinių gebėjimų sąsajų tyrimai yra būtimi.Pagrindiniai žodžiai: pažintiniai gebėjimai, APOE ɛ4 genotipas.ASSOCIATIONS BETWEEN COGNITIVE FUNCTIONS AND APOLIPOPROTEIN E Ɛ4 GENOTYPE: SYSTEMIC REVIEWLaura Sapranavičiūtė, Abdonas TamošiūnasSummaryDeterioration of cognitive functions is becoming more and more important issue in context of aging. So there is the growing interest in studies looking for the risk factors of deterioration of cognitive functions. Apolipoprotein E is a plasma protein whose major function is lipids transportation. APOE ɛ4 allele of the Apolipoprotein E gene is known as a risk factor of Alzheimer disease. Previous researchers stated, that APOE ɛ4 also might be related to cognitive performance in normal aging. However results of previous studies are quit confusing: different studies established various associations between APOE ɛ4 and specific cognitive functions. Moreover, longitudinal studies failed to establish prognostic value of APOE ɛ4 genotype to different levels of cognitive functions deterioration. So the purpose of this study is to review prospective, observational, cohort studies that had researched association between APOE ɛ4 and cognitive functions using systematic analysis method.The weight of evidence suggests that APOE ɛ4 is associated with cognitive functions in healthy adults. APOE ɛ4 carriers are likely to have lower level of cognitive functions. Associations between specific cognitive functions and APOE ɛ4 genotype are quit confusing. The most consistent finding was a negative relationship between APOE ɛ4 genotype and performance of memory and executive functioning. Presence of APOE ɛ4 and attention test results was less likely to be associated. Reasoning and verbal abilities were mostly not connected to APOE ɛ4 genotype. Associations between APOE ɛ4 and cognitive function differ in the groups of healthy adults, adults with mild cognitive impairment or Alzheimer disease. There were established that APOE ɛ4 is associated with cognitive functions in cognitively impaired population. People with mild cognitive impairment or Alzheimer disease more often tended to be APOE ɛ4 carriers in comparison with people who are not cognitively impaired. Longitudinal studies revealed different links between APOE ɛ4 and cognitive functions. Although APOE ɛ4 might be a risk factor of deterioration of cognitive functions in healthy and impaired cognitive functions groups. Yet prognostic value of APOE ɛ4 in deterioration of cognitive functions in Alzheimer population is confusing.The current review suggests that APOE ɛ4 has an effect on cognitive functions. It might be a risk factor for deterioration of cognitive functions in healthy adults and cognitively impaired population. However further researches are needed to establish specific associations between APOE ɛ4 genotype and different cognitive functions in healthy adults and disease populations.Keywords: cognitive functions, APOE ɛ4 genotype.


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