scholarly journals Alzheimer's Disease: Definition, Molecular and Genetic Factors

Author(s):  
Eva Babusikova ◽  
Andrea Evinova ◽  
Jana Jurecekova ◽  
Milos Jesenak ◽  
Dusan Dobrot
2013 ◽  
Vol 10 (8) ◽  
pp. 852-867 ◽  
Author(s):  
Teng Jiang ◽  
Jin-Tai Yu ◽  
Yan Tian ◽  
Lan Tan

2020 ◽  
Author(s):  
Sarang Kang ◽  
Tamil Iniyan Gunasekaran ◽  
Kyu Yeong Choi ◽  
Jang Jae Lee ◽  
Sungho Won ◽  
...  

ABSTRACTThe high genetic heritability of Alzheimer’s disease has contributed to the multi-directional and large-scale genomic studies to discover genetic factors, and so far many massive studies have been reported. However, the majority of genetic factors have been identified through European races, and relatively few studies using East Asians to discover genetic factors. In this study, East Asian specific loci is first reported through GWAS using GARD cohorts, which have been intensively recruited and managed by a single institution. ApoE-stratified GWAS with the AD cases and matched controls (n=2,291) in the Korean cohort and validation analysis using a Japanese sample (n=1,956) replicated six previously reported loci (genes) including ApoE and suggested two novel susceptible loci in LRIG1 and CACNA1A gene. This study demonstrates that discovery of AD-associated variants can be accomplished in ethnic groups of a more homogeneous genetic background using samples comprising fewer subjects.


2020 ◽  
Vol 10 (3) ◽  
pp. 90 ◽  
Author(s):  
Catia Scassellati ◽  
Miriam Ciani ◽  
Carlo Maj ◽  
Cristina Geroldi ◽  
Orazio Zanetti ◽  
...  

Background: The occurrence of Behavioral and Psychological Symptoms of Dementia (BPSD) in Alzheimer’s Disease (AD) patients hampers the clinical management and exacerbates the burden for caregivers. The definition of the clinical distribution of BPSD symptoms, and the extent to which symptoms are genetically determined, are still open to debate. Moreover, genetic factors that underline BPSD symptoms still need to be identified. Purpose. To characterize our Italian AD cohort according to specific BPSD symptoms as well as to endophenotypes. To evaluate the associations between the considered BPSD traits and COMT, MTHFR, and APOE genetic variants. Methods. AD patients (n = 362) underwent neuropsychological examination and genotyping. BPSD were assessed with the Neuropsychiatric Inventory scale. Results. APOE and MTHFR variants were significantly associated with specific single BPSD symptoms. Furthermore, “Psychosis” and “Hyperactivity” resulted in the most severe endophenotypes, with APOE and MTHFR implicated as both single risk factors and “genexgene” interactions. Conclusions. We strongly suggest the combined use of both BPSD single symptoms/endophenotypes and the “genexgene” interactions as valid strategies for expanding the knowledge about the BPSD aetiopathogenetic mechanisms.


Sign in / Sign up

Export Citation Format

Share Document