Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort

Lambros Mathioudakis; Christina Dimovasili; Mara Bourbouli; Helen Latsoudis; Evgenia Kokosali; Garyfallia Gouna; Emmanouella Vogiatzi; Maria Basta; Stefania Kapetanaki; Simeon Panagiotakis; Alexandros Kanterakis; Dimitrios Boumpas; Christos Lionis; Andreas Plaitakis; Panagiotis Simos; Alexandros Vgontzas; Dimitrios Kafetzopoulos; Ioannis Zaganas

doi:10.1016/j.neurobiolaging.2022.07.002

Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort

Lambros Mathioudakis, Christina Dimovasili, Mara Bourbouli, Helen Latsoudis, Evgenia Kokosali, Garyfallia Gouna, Emmanouella Vogiatzi, Maria Basta, Stefania Kapetanaki, Simeon Panagiotakis, Alexandros Kanterakis, Dimitrios Boumpas, Christos Lionis, Andreas Plaitakis, Panagiotis Simos, Alexandros Vgontzas, Dimitrios Kafetzopoulos, Ioannis Zaganas

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2 Scopus citations

Abstract

Using exome sequencing, we analyzed 196 participants of the Cretan Aging Cohort (CAC; 95 with Alzheimer's disease [AD], 20 with mild cognitive impairment [MCI], and 81 cognitively normal controls). The APOE ε4 allele was more common in AD patients (23.2%) than in controls (7.4%; p < 0.01) and the PSEN2 p.Arg29His and p.Cys391Arg variants were found in 3 AD and 1 MCI patient, respectively. Also, we found the frontotemporal dementia (FTD)-associated TARDBP gene p.Ile383Val variant in 2 elderly patients diagnosed with AD and in 2 patients, non CAC members, with the amyotrophic lateral sclerosis/FTD phenotype. Furthermore, the p.Ser498Ala variant in the positively selected GLUD2 gene was less frequent in AD patients (2.11%) than in controls (16%; p < 0.01), suggesting a possible protective effect. While the same trend was found in another local replication cohort (n = 406) and in section of the ADNI cohort (n = 808), this finding did not reach statistical significance and therefore it should be considered preliminary. Our results attest to the value of genetic testing to study aged adults with AD phenotype.

Original language	English (US)
Pages (from-to)	111-128
Number of pages	18
Journal	Neurobiology of Aging
Volume	123
DOIs	https://doi.org/10.1016/j.neurobiolaging.2022.07.002
State	Published - Mar 2023

All Science Journal Classification (ASJC) codes

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2022.07.002

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Mathioudakis, L., Dimovasili, C., Bourbouli, M., Latsoudis, H., Kokosali, E., Gouna, G., Vogiatzi, E., Basta, M., Kapetanaki, S., Panagiotakis, S., Kanterakis, A., Boumpas, D., Lionis, C., Plaitakis, A., Simos, P., Vgontzas, A., Kafetzopoulos, D., & Zaganas, I. (2023). Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort. Neurobiology of Aging, 123, 111-128. https://doi.org/10.1016/j.neurobiolaging.2022.07.002

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title = "Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort",

abstract = "Using exome sequencing, we analyzed 196 participants of the Cretan Aging Cohort (CAC; 95 with Alzheimer's disease [AD], 20 with mild cognitive impairment [MCI], and 81 cognitively normal controls). The APOE ε4 allele was more common in AD patients (23.2%) than in controls (7.4%; p < 0.01) and the PSEN2 p.Arg29His and p.Cys391Arg variants were found in 3 AD and 1 MCI patient, respectively. Also, we found the frontotemporal dementia (FTD)-associated TARDBP gene p.Ile383Val variant in 2 elderly patients diagnosed with AD and in 2 patients, non CAC members, with the amyotrophic lateral sclerosis/FTD phenotype. Furthermore, the p.Ser498Ala variant in the positively selected GLUD2 gene was less frequent in AD patients (2.11%) than in controls (16%; p < 0.01), suggesting a possible protective effect. While the same trend was found in another local replication cohort (n = 406) and in section of the ADNI cohort (n = 808), this finding did not reach statistical significance and therefore it should be considered preliminary. Our results attest to the value of genetic testing to study aged adults with AD phenotype.",

author = "Lambros Mathioudakis and Christina Dimovasili and Mara Bourbouli and Helen Latsoudis and Evgenia Kokosali and Garyfallia Gouna and Emmanouella Vogiatzi and Maria Basta and Stefania Kapetanaki and Simeon Panagiotakis and Alexandros Kanterakis and Dimitrios Boumpas and Christos Lionis and Andreas Plaitakis and Panagiotis Simos and Alexandros Vgontzas and Dimitrios Kafetzopoulos and Ioannis Zaganas",

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year = "2023",

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doi = "10.1016/j.neurobiolaging.2022.07.002",

language = "English (US)",

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Mathioudakis, L, Dimovasili, C, Bourbouli, M, Latsoudis, H, Kokosali, E, Gouna, G, Vogiatzi, E, Basta, M, Kapetanaki, S, Panagiotakis, S, Kanterakis, A, Boumpas, D, Lionis, C, Plaitakis, A, Simos, P, Vgontzas, A, Kafetzopoulos, D & Zaganas, I 2023, 'Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort', Neurobiology of Aging, vol. 123, pp. 111-128. https://doi.org/10.1016/j.neurobiolaging.2022.07.002

TY - JOUR

T1 - Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort

AU - Mathioudakis, Lambros

AU - Dimovasili, Christina

AU - Bourbouli, Mara

AU - Latsoudis, Helen

AU - Kokosali, Evgenia

AU - Gouna, Garyfallia

AU - Vogiatzi, Emmanouella

AU - Basta, Maria

AU - Kapetanaki, Stefania

AU - Panagiotakis, Simeon

AU - Kanterakis, Alexandros

AU - Boumpas, Dimitrios

AU - Lionis, Christos

AU - Plaitakis, Andreas

AU - Simos, Panagiotis

AU - Vgontzas, Alexandros

AU - Kafetzopoulos, Dimitrios

AU - Zaganas, Ioannis

PY - 2023/3

Y1 - 2023/3

N2 - Using exome sequencing, we analyzed 196 participants of the Cretan Aging Cohort (CAC; 95 with Alzheimer's disease [AD], 20 with mild cognitive impairment [MCI], and 81 cognitively normal controls). The APOE ε4 allele was more common in AD patients (23.2%) than in controls (7.4%; p < 0.01) and the PSEN2 p.Arg29His and p.Cys391Arg variants were found in 3 AD and 1 MCI patient, respectively. Also, we found the frontotemporal dementia (FTD)-associated TARDBP gene p.Ile383Val variant in 2 elderly patients diagnosed with AD and in 2 patients, non CAC members, with the amyotrophic lateral sclerosis/FTD phenotype. Furthermore, the p.Ser498Ala variant in the positively selected GLUD2 gene was less frequent in AD patients (2.11%) than in controls (16%; p < 0.01), suggesting a possible protective effect. While the same trend was found in another local replication cohort (n = 406) and in section of the ADNI cohort (n = 808), this finding did not reach statistical significance and therefore it should be considered preliminary. Our results attest to the value of genetic testing to study aged adults with AD phenotype.

AB - Using exome sequencing, we analyzed 196 participants of the Cretan Aging Cohort (CAC; 95 with Alzheimer's disease [AD], 20 with mild cognitive impairment [MCI], and 81 cognitively normal controls). The APOE ε4 allele was more common in AD patients (23.2%) than in controls (7.4%; p < 0.01) and the PSEN2 p.Arg29His and p.Cys391Arg variants were found in 3 AD and 1 MCI patient, respectively. Also, we found the frontotemporal dementia (FTD)-associated TARDBP gene p.Ile383Val variant in 2 elderly patients diagnosed with AD and in 2 patients, non CAC members, with the amyotrophic lateral sclerosis/FTD phenotype. Furthermore, the p.Ser498Ala variant in the positively selected GLUD2 gene was less frequent in AD patients (2.11%) than in controls (16%; p < 0.01), suggesting a possible protective effect. While the same trend was found in another local replication cohort (n = 406) and in section of the ADNI cohort (n = 808), this finding did not reach statistical significance and therefore it should be considered preliminary. Our results attest to the value of genetic testing to study aged adults with AD phenotype.

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AN - SCOPUS:85138830297

SN - 0197-4580

VL - 123

SP - 111

EP - 128

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

Study of Alzheimer's disease- and frontotemporal dementia-associated genes in the Cretan Aging Cohort

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