Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls

Cruz-Sanabria, Francy; Bonilla-Vargas, Kely; Estrada, Karol; Mancera, O.; Vega, E.; Guerrero, Esneyder; Ortega-Rojas, Jenny; María, F. Mahecha; Romero, Ana; Montañés, Patricia; Celeita, V.; Arboleda, Humberto; Pardo, Rodrigo

doi:10.1016/j.nrleng.2018.07.012

Cited by 8 publications

(5 citation statements)

References 28 publications

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“…Topic 1 has seventy articles. Several of them contain information on the query made; only six works are not linked to AD [35,44,49,72,82,92]. The majority (four) focus on longevity and APoE [35,49,72,82,92].…”

Section: Discussionmentioning

confidence: 99%

“…The last is to explore genes in lipid and Alzheimer's disease associated with healthy aging and longevity in healthy older populations [92]. In the other two papers, one describes age-related white matter changes [82], and one analyses the cognitive performance and polymorphisms of several genes, including ApoE, in patients with mild cognitive impairment and cognitively healthy controls [44].…”

Section: Discussionmentioning

confidence: 99%

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Machine Learning Approach to Identify Case-Control Studies on ApoE Gene Mutations Linked to Alzheimer’s Disease in Italy

Saraceno,

Abrego-Guandique,

Cannataro

et al. 2024

BioMedInformatics

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Background: An application of artificial intelligence is machine learning, which allows computer programs to learn and create data. Methods: In this work, we aimed to evaluate the performance of the MySLR machine learning platform, which implements the Latent Dirichlet Allocation (LDA) algorithm in the identification and screening of papers present in the literature that focus on mutations of the apolipoprotein E (ApoE) gene in Italian Alzheimer’s Disease patients. Results: MySLR excludes duplicates and creates topics. MySLR was applied to analyze a set of 164 scientific publications. After duplicate removal, the results allowed us to identify 92 papers divided into two relevant topics characterizing the investigated research area. Topic 1 contains 70 papers, and topic 2 contains the remaining 22. Despite the current limitations, the available evidence suggests that articles containing studies on Italian Alzheimer’s Disease (AD) patients were 65.22% (n = 60). Furthermore, the presence of papers about mutations, including single nucleotide polymorphisms (SNPs) ApoE gene, the primary genetic risk factor of AD, for the Italian population was 5.4% (n = 5). Conclusion: The results show that the machine learning platform helped to identify case-control studies on ApoE gene mutations, including SNPs, but not only conducted in Italy.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Machine Learning Approach to Identify Case-Control Studies on ApoE Gene Mutations Linked to Alzheimer’s Disease in Italy

Saraceno,

Abrego-Guandique,

Cannataro

et al. 2024

BioMedInformatics

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“…Interestingly, the association between BIN1 and AD appears independent of the established association between the cholesterol transport protein Apolipoprotein E (APOE) and AD. Overall, BIN1 has been argued to be the first or second most important genetic risk factor for LOAD ( Cruz-Sanabria et al, 2021 ). Figure 1 summarizes various functional impacts that Bin1 may conceivably exert in AD, based on present knowledge.…”

Section: The Role Of Bin1 In Alzheimer’s Diseasementioning

confidence: 99%

Gut-brain connections in neurodegenerative disease: immunotherapeutic targeting of Bin1 in inflammatory bowel disease and Alzheimer’s disease

Thomas

Prendergast

2023

Front. Pharmacol.

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Longer lifespan produces risks of age-associated neurodegenerative disorders such as Alzheimer’s disease (AD), which is characterized by declines in memory and cognitive function. The pathogenic causes of AD are thought to reflect a progressive aggregation in the brain of amyloid plaques composed of beta-amyloid (Aß) peptides and neurofibrillary tangles composed of phosphorylated tau protein. Recently, long-standing investigations of the Aß disease hypothesis gained support via a passive immunotherapy targeting soluble Aß protein. Tau-targeting approaches using antibodies are also being pursued as a therapeutic approach to AD. In genome-wide association studies, the disease modifier gene Bin1 has been identified as a top risk factor for late-onset AD in human populations, with recent studies suggesting that Bin1 binds tau and influences its extracellular deposition. Interestingly, before AD emerges in the brain, tau levels rise in the colon, where Bin1—a modifier of tissue barrier function and inflammation—acts to promote inflammatory bowel disease (IBD). This connection is provocative given clinical evidence of gut-brain communication in age-associated neurodegenerative disorders, including AD. In this review, we discuss a Bin1-targeting passive immunotherapy developed in our laboratory to treat IBD that may offer a strategy to indirectly reduce tau deposition and limit AD onset or progression.

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“…An association between risk polymorphisms and cognitive profiles in mild cognitive impairment (MCI), AD, FTD, and amyotrophic lateral sclerosis (ALS) have recently been explored to evaluate disease development and progression ( 9 , 17 ). The association between the studied loci and deficits in cognitive processes such as executive functions, language, visuospatial skills, and memory have been found in the four diseases ( 12 ).…”

Section: Introductionmentioning

confidence: 99%

Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia

et al. 2022

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Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disease of presenile onset. A better characterization of neurodegenerative disorders has been sought by using tools such as genome-wide association studies (GWAS), where associations between single nucleotide polymorphisms (SNPs) and cognitive profiles could constitute predictive biomarkers for these diseases. However, in FTD, associations between genotypes and cognitive phenotypes are yet to be explored. Here, we evaluate a possible relationship between genetic variants and some cognitive functions in an FTD population.MethodologyA total of 47 SNPs in genes associated with neurodegenerative diseases were evaluated using the Sequenom MassARRAY platform along with their possible relationship with performance in neuropsychological tests in 105 Colombian patients diagnosed with FTD.Results and discussionThe SNPs rs429358 (APOE), rs1768208 (MOBP), and rs1411478 (STX6), were identified as risk factors for having a low cognitive performance in inhibitory control and phonological verbal fluency. Although the significance level was not enough to reach the corrected alpha for multiple comparison correction, our exploratory data may constitute a starting point for future studies of these SNPs and their relationship with cognitive performance in patients with a probable diagnosis of FTD. Further studies with an expansion of the sample size and a long-term design could help to explore the predictive nature of the potential associations we identified.

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Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls

Cited by 8 publications

References 28 publications

Machine Learning Approach to Identify Case-Control Studies on ApoE Gene Mutations Linked to Alzheimer’s Disease in Italy

Machine Learning Approach to Identify Case-Control Studies on ApoE Gene Mutations Linked to Alzheimer’s Disease in Italy

Gut-brain connections in neurodegenerative disease: immunotherapeutic targeting of Bin1 in inflammatory bowel disease and Alzheimer’s disease

Association between risk polymorphisms for neurodegenerative diseases and cognition in colombian patients with frontotemporal dementia

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