AI Article Synopsis
- The study analyzed 196 participants from the Cretan Aging Cohort, focusing on genetic variants associated with Alzheimer's disease (AD) and mild cognitive impairment (MCI).
- The research found a significant prevalence of the APOE ε4 allele in AD patients compared to cognitively normal controls and identified additional genetic variants linked to both AD and other neurodegenerative conditions.
- Notably, a specific variant in the GLUD2 gene appeared to be less common in AD patients, hinting at a potential protective effect, although further studies are needed to confirm these results.
Article 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.
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| http://dx.doi.org/10.1016/j.neurobiolaging.2022.07.002 | DOI Listing |
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Article Synopsis
- The study analyzed 196 participants from the Cretan Aging Cohort, focusing on genetic variants associated with Alzheimer's disease (AD) and mild cognitive impairment (MCI).
- The research found a significant prevalence of the APOE ε4 allele in AD patients compared to cognitively normal controls and identified additional genetic variants linked to both AD and other neurodegenerative conditions.
- Notably, a specific variant in the GLUD2 gene appeared to be less common in AD patients, hinting at a potential protective effect, although further studies are needed to confirm these results.
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