In recent years, genome-wide association (GWAS) and whole-genome/exome (WGS/WES) sequencing analyses have been instrumental in our understanding of Alzheimer’s disease (AD). With the emergence of large consortia including early (age at onset before 65 years old) and late onset patients, we saw over the past decade a shift from the identification of clearly autosomal dominant mutations to the identification of rare variants with strong to intermediate effect size such as rare variants in TREM2, SORL1 and ABCA7. The spectrum of genetic alterations associated with Alzheimer’s disease increased tremendously with more than 40 loci associated with late onset AD and 3 with early onset AD. Adding to the classical view of monogenic disorder, several groups reported a polygenic component in the disease etiology, with a combination of common variants correlating with disease onset. Despite such advances, most AD individuals remain unexplained by known genetic variants and more genetic studies are required to fill that gap. In addition, even though several genetic factors have been reported, the link between them and gene dysfunction remains underexplored. Integrative studies, combining genetic, transcriptomic and epigenetic may not only shed light on disease mechanisms, but also open new avenues for early detection, genetic counselling and development of disease-modifying strategies.
Therefore, the goal of this Research Topic is to explore the relationship between rare and common variants with Alzheimer’s disease status. We aim to provide a comprehensive overview of the disease etiology from the genetic, transcriptomic and epigenetic point of view.
In this Research Topic, we aim to extensively explore the genetic, epigenetic and transcriptomic alterations associated with Alzheimer’s disease. The goal of this Research Topic can be achieved by (but not limited to) performing large scale genome wide association studies (GWAS) using state of the art sequencing technologies; also by using case-control studies of specific Alzheimer’s disease populations. In addition, we welcome bulk and single-cell RNA-sequencing studies as well as epigenetic studies on human population. Finally, as the use of disease models is highly valuable, we also encourage submission of this type of studies using such models.
Topic Editors welcome Original Research, Review, Systematic Review, Mini-Review, Methods, Hypothesis and Theory, Perspective, Clinical Trial, Case Report, Brief Research report, General Commentary, and Opinion article types that cover, but are not limited to, the following topics:
a. Whole genome or exome sequencing studies (short read, long read)
b. Genome-wide association studies (GWAS)
c. Polygenic association studies
d. Copy number and structural variants association studies
e. Transcriptomics analysis, on bulk tissue or at the single-cell scale
f. Epigenetic studies
In recent years, genome-wide association (GWAS) and whole-genome/exome (WGS/WES) sequencing analyses have been instrumental in our understanding of Alzheimer’s disease (AD). With the emergence of large consortia including early (age at onset before 65 years old) and late onset patients, we saw over the past decade a shift from the identification of clearly autosomal dominant mutations to the identification of rare variants with strong to intermediate effect size such as rare variants in TREM2, SORL1 and ABCA7. The spectrum of genetic alterations associated with Alzheimer’s disease increased tremendously with more than 40 loci associated with late onset AD and 3 with early onset AD. Adding to the classical view of monogenic disorder, several groups reported a polygenic component in the disease etiology, with a combination of common variants correlating with disease onset. Despite such advances, most AD individuals remain unexplained by known genetic variants and more genetic studies are required to fill that gap. In addition, even though several genetic factors have been reported, the link between them and gene dysfunction remains underexplored. Integrative studies, combining genetic, transcriptomic and epigenetic may not only shed light on disease mechanisms, but also open new avenues for early detection, genetic counselling and development of disease-modifying strategies.
Therefore, the goal of this Research Topic is to explore the relationship between rare and common variants with Alzheimer’s disease status. We aim to provide a comprehensive overview of the disease etiology from the genetic, transcriptomic and epigenetic point of view.
In this Research Topic, we aim to extensively explore the genetic, epigenetic and transcriptomic alterations associated with Alzheimer’s disease. The goal of this Research Topic can be achieved by (but not limited to) performing large scale genome wide association studies (GWAS) using state of the art sequencing technologies; also by using case-control studies of specific Alzheimer’s disease populations. In addition, we welcome bulk and single-cell RNA-sequencing studies as well as epigenetic studies on human population. Finally, as the use of disease models is highly valuable, we also encourage submission of this type of studies using such models.
Topic Editors welcome Original Research, Review, Systematic Review, Mini-Review, Methods, Hypothesis and Theory, Perspective, Clinical Trial, Case Report, Brief Research report, General Commentary, and Opinion article types that cover, but are not limited to, the following topics:
a. Whole genome or exome sequencing studies (short read, long read)
b. Genome-wide association studies (GWAS)
c. Polygenic association studies
d. Copy number and structural variants association studies
e. Transcriptomics analysis, on bulk tissue or at the single-cell scale
f. Epigenetic studies
