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.
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http://dx.doi.org/10.1016/j.neurobiolaging.2016.02.024 | DOI Listing |
Pharmazie
December 2024
Department of Pharmacology and Toxicology, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia.
: 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 PDFInt J Behav Med
January 2025
Department of Stomatology, Zhejiang Hospital, Hangzhou, China.
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.
Eur J Hum Genet
January 2025
CENTOGENE GmbH, Rostock, Germany.
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 PDFSci Rep
January 2025
Department of Endocrinology and Metabolism, Affiliated Hospital of Southwest Medical University, Luzhou, 646000, China.
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 PDFSci Rep
January 2025
Biology Department, UAE University, P.O. Box 15551, Al Ain, UAE.
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.
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