Análisis de desempeños cognitivos y polimorfismos en SORL, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU y BIN1 en pacientes con trastorno neurocognitivo leve y en sujetos cognitivamente sanos

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.nrl.2018.07.002

Cited by 8 publications

(6 citation statements)

References 26 publications

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“…We used the Neuronorma Colombia (Neuronorm-Col) diagnostic NP battery for cognitive assessment [40,41,42,43,44,45,46,47,48]. Neuronorm-Col consists of language tests (Boston Naming Test and Token Test), visuoconstructive skills (Rey–Osterrieth Complex Figure), attention and executive functions (WAIS-III Digit Retention Tests, Corsi Cubes, Trail Making Tests A and B (TMT A and B), Digit–Symbol Test (SDMT), Stroop Color–Word Test, Tower of London test, Win-Dingo Card Sorting Test and Verbal Fluency), and memory (Free and Cued Selective Reminding Test) [40,41,42,43,44,45,46,47,48].…”

Section: Methodsmentioning

confidence: 99%

“…Differential diagnosis of other related cognitive disorders was based on information from complete neuropsychological testing, medical and social history, activities of daily living, reported cognitive symptoms, and neuroimaging findings. Global cognitive functioning was assessed with the Neuronorm-Col diagnostic neuropsychological battery [40,41,42,43,44,45,46] and other functional scales [47,48]. NP criteria for MCI included scores 1.5–2.0 SD below education- and age-corrected values on at least two individual tests within a cognitive domain.…”

Section: Methodsmentioning

confidence: 99%

“…The control group was composed of cognitively healthy subjects who were selected based on the performances obtained in the screening scales and in the Neuronorma-Colombia battery, a neuropsychological battery normalized to our population in the context of the Spanish Multicenter Normative Studies (NEURONORMA project) [40,41,42,43,44,45,46] The cognitive domains evaluated in this battery were: attention (TMT A, TMT B, SDMT, Stroop Test, and Verbal and Direct Visual Span), memory (Grober & Buschke Test, Rey–Osterrieth Complex Figure Evocation), language (Boston Naming Test, Token Test, Verbal Fluency), visual-constructional skills (Rey–Osterrieth Complex Figure Copy), and executive functions (Verbal Phonological Fluency, Tower of London, Interference Stroop Test, and Wisconsin Card Sorting Test).…”

Section: Methodsmentioning

confidence: 99%

“…The following scores were considered normal for the screening tests: Montreal Cognitive Assessment (MOCA) [49], >24; INECO Frontal Screening (IFS) [50], >17.5; Yesavage scale [51], <5; Neuropsychiatric inventory (NPI) [52], <4; and Modified Lawton scale [47], 14–14. In the Neuropsychological tests [40,41,42,43,44,45,46,47,49,50,51,52,53,54], the cutoff point was one standard deviation (<1 SD) below the mean according to Petersen criteria [4]. Therefore, subjects with scores below the mean or <1 SD in two or more tests evaluating the same cognitive domain were discarded as controls [4].…”

Section: Methodsmentioning

confidence: 99%

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Differential Methylation in APOE (Chr19; Exon Four; from 44,909,188 to 44,909,373/hg38) and Increased Apolipoprotein E Plasma Levels in Subjects with Mild Cognitive Impairment

Mancera-Páez

Estrada-Orozco

Mahecha

et al. 2019

IJMS

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Background: Biomarkers are essential for identification of individuals at high risk of mild cognitive impairment (MCI) for potential prevention of dementia. We investigated DNA methylation in the APOE gene and apolipoprotein E (ApoE) plasma levels as MCI biomarkers in Colombian subjects with MCI and controls. Methods: In total, 100 participants were included (71% women; average age, 70 years; range, 43–91 years). MCI was diagnosed by neuropsychological testing, medical and social history, activities of daily living, cognitive symptoms and neuroimaging. Using multivariate logistic regression models adjusted by age and gender, we examined the risk association of MCI with plasma ApoE and APOE methylation. Results: MCI was diagnosed in 41 subjects (average age, 66.5 ± 9.6 years) and compared with 59 controls. Elevated plasma ApoE and APOE methylation of CpGs 165, 190, and 198 were risk factors for MCI (p < 0.05). Higher CpG-227 methylation correlated with lower risk for MCI (p = 0.002). Only CpG-227 was significantly correlated with plasma ApoE levels (correlation coefficient = −0.665; p = 0.008). Conclusion: Differential APOE methylation and increased plasma ApoE levels were correlated with MCI. These epigenetic patterns require confirmation in larger samples but could potentially be used as biomarkers to identify early stages of MCI.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Differential Methylation in APOE (Chr19; Exon Four; from 44,909,188 to 44,909,373/hg38) and Increased Apolipoprotein E Plasma Levels in Subjects with Mild Cognitive Impairment

Mancera-Páez

Estrada-Orozco

Mahecha

et al. 2019

IJMS

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“…Although the expression of APOE and its differential methylation levels in LOAD has been explored, there are no studies in subjects with MCI in LA describing the relationship between APOE methylation levels and apolipoprotein E differential expression. Therefore, we conducted this study [28][29][30][31][32][33][34] and other functional scales [35,36].…”

Section: Introductionmentioning

confidence: 99%

Differential Methylation in APOE Genes (Chr19; exon four; from 44,909,188 to 44,909,373) and Increased Apolipoprotein E Plasmatic Levels in Subjects with Mild Cognitive Impairment”

Mancera-Páez¹,

Estrada-Orozco²,

Mahecha³

et al. 2019

Preprint

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Background: Biomarkers are essential for identification of individuals at high risk of mild cognitive impairment (MCI) for potential prevention of dementia. We investigated DNA methylation in the ApoE gene and plasmatic apolipoprotein E (ApoE) levels as MCI biomarkers in Colombian subjects with MCI and controls. Methods: 100 participants were included (71% women, average age, 70 yrs., range 43-91). MCI was diagnosed by neuropsychological testing, medical and social history, activities of daily living, cognitive symptoms and neuroimaging. Multivariate logistic regression models adjusted by age and gender were performed to examine the risk association of MCI with plasma ApoE and APOE methylation Results: MCI was diagnosed in 41 subjects (average age, 66.5±9.6 yrs.) and compared with 59 controls. Elevated plasma ApoE and APOE methylation of CpGs 165, 190, and 198 were risk factors for MCI (P<0.05). Higher CpG-227 methylation correlated with lower risk for MCI (P=0.002). Only CpG-227 was significantly correlated with plasmatic ApoE levels (correlation coefficient=-0.665; P=0.008). Conclusion: Differential APOE methylation and increased plasma ApoE levels were correlated with MCI. These epigenetic patterns can be used as potential biomarkers to identify early stages of MCI.

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A TOMM40/APOE allele encoding APOE‐E3 predicts high likelihood of late‐onset Alzheimer’s disease in autopsy cases

Soyal

Kwik

Kalev

et al. 2020

Molec Gen & Gen Med

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Background The APOE ‐ε4 allele is an established risk factor for Alzheimer's disease (AD). TOMM40 located adjacent to APOE has also been implicated in AD but reports of TOMM40 associations with AD that are independent of APOE ‐ε4 are at variance. Methods We investigated associations of AD with haplotypes defined by three TOMM40 and two APOE single nucleotide polymorphisms in 73 and 71 autopsy cases with intermediate and high likelihood of AD (defined by BRAAK stages 0.02. The two haplotypes encoding APOE ‐E4 showed strong associations with AD that did not differ between intermediate and high likelihood AD. In contrast, a TOMM40 haplotype encoding APOE‐ E3 was identified as risk haplotype of high‐ ( p = .0186), but not intermediate likelihood AD ( p = .7530). Furthermore, the variant allele of rs2075650 located in intron 2 of TOMM40 , increased the risk of high‐, but not intermediate likelihood AD on the APOE ‐ε3/ε3 background ( p = .0230). Conclusion The striking association of TOMM40 only with high likelihood AD may explain some contrasting results for TOMM40 in clinical studies and may reflect an association with more advanced disease and/or suggest a role of TOMM40 in the pathogenesis of neurofibrillary tangles.

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Análisis de desempeños cognitivos y polimorfismos en SORL, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU y BIN1 en pacientes con trastorno neurocognitivo leve y en sujetos cognitivamente sanos

Cited by 8 publications

References 26 publications

Differential Methylation in APOE (Chr19; Exon Four; from 44,909,188 to 44,909,373/hg38) and Increased Apolipoprotein E Plasma Levels in Subjects with Mild Cognitive Impairment

Differential Methylation in APOE (Chr19; Exon Four; from 44,909,188 to 44,909,373/hg38) and Increased Apolipoprotein E Plasma Levels in Subjects with Mild Cognitive Impairment

Differential Methylation in APOE Genes (Chr19; exon four; from 44,909,188 to 44,909,373) and Increased Apolipoprotein E Plasmatic Levels in Subjects with Mild Cognitive Impairment”

A TOMM40/APOE allele encoding APOE‐E3 predicts high likelihood of late‐onset Alzheimer’s disease in autopsy cases

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