Alzheimer's disease (AD) is a complex genetic disorder with no effective treatments. More than 20 common markers have been identified, which are associated with AD. Recently, several rare variants have been identified in Amyloid Precursor Protein (APP), Triggering Receptor Expressed On Myeloid Cells 2 (TREM2) and Unc-5 Netrin Receptor C (UNC5C) that affect risk for AD. Despite the many successes, the genetic architecture of AD remains unsolved. We used Genome-wide Complex Trait Analysis to (1) estimate phenotypic variance explained by genetics; (2) calculate genetic variance explained by known AD single nucleotide polymorphisms (SNPs); and (3) identify the genomic locations of variation that explain the remaining unexplained genetic variance. In total, 53.24% of phenotypic variance is explained by genetics, but known AD SNPs only explain 30.62% of the genetic variance. Of the unexplained genetic variance, approximately 41% is explained by unknown SNPs in regions adjacent to known AD SNPs, and the remaining unexplained genetic variance outside these regions.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948179PMC
http://dx.doi.org/10.1016/j.neurobiolaging.2016.02.024DOI Listing

Publication Analysis

Top Keywords

genetic variance
24
variance explained
12
unexplained genetic
12
variance
8
alzheimer's disease
8
phenotypic variance
8
explained genetics
8
remaining unexplained
8
genetic
7
assessment genetic
4

Similar Publications

: Major Depressive Disorder (MDD) is a prevalent and debilitating mental disorder that has been linked to hyperhomocysteinemia and folate deficiency. These conditions are influenced by the methylenetetrahydrofolate reductase () gene, which plays a crucial role in converting homocysteine to methionine and is essential for folate metabolism and neurotransmitter synthesis, including serotonin. : This study explored the association between and polymorphisms among Saudi MDD patients attending the Erada Complex for Mental Health and Erada Services outpatient clinic in Jeddah, Saudi Arabia.

View Article and Find Full Text PDF

Background: Dental caries (DC) is a significant common disease of the oral cavity. Recently, researchers have focused more on the impact of poor sleep habits on the incidence and development of DC, which aroused our interest in the study of the correlation and causal relationship between sleep and dental caries.

Methods: In this study, Linkage disequilibrium score (LDSC) regression method was used to found the genetic correlation between different sleep traits and DC, while bidirectional Mendelian randomization (MR) methods were used to explore the causal relationship.

View Article and Find Full Text PDF

We aimed to assess the impact of splicing variants reported in our laboratory to gain insight into their clinical relevance. A total of 108 consecutive individuals, for whom 113 splicing variants had been reported, were selected for RNA-sequencing (RNA-seq), considering the gene expression in blood. A protocol was developed to perform RNA extraction and sequencing using the same sample (dried blood spots, DBS) provided for the DNA analysis, including library preparation and bioinformatic pipeline analysis.

View Article and Find Full Text PDF

With the rapid advancement of proteomics, numerous scholars have investigated the intricate relationships between plasma proteins and various diseases. Therefore, this study aims to elucidate the relationship between BDH1 and type 2 diabetes using Mendelian randomization (MR) and to identify novel targets for the prevention and treatment of type 2 diabetes through proteomics. This study primarily employed the Mendelian Randomization (MR) method, leveraging genetic data from numerous large-scale, publicly accessible genome-wide association studies (GWAS).

View Article and Find Full Text PDF

Culex quinquefasciatus is a widely spread mosquito species that poses a significant public health threat in many countries. This insect vector is present in the United Arab Emirates (UAE), yet no studies have been conducted on its resistance to any insecticide group. Research shows that controlling mosquitoes is crucial to eliminating mosquito-borne diseases, but when these vectors develop insecticide resistance, the situation can escalate dangerously out of control.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!