The aim of this study was to determine the prevalence of , , , , and genes polymorphisms among residents of the Volga region (Chuvash and Mari) and northern Caucasus (Kabardins and Ossetians). The study involved 845 apparently healthy volunteers of both sexes of the four different ethnic groups living in the Russian Federation: 238 from the Chuvash ethnic group, 206 Mari, 157 Kabardins and 244 Ossetians. Significant differences were identified in allele frequency of , , , , and genes polymorphisms between the Chuvash and Kabardins, Chuvash and Ossetians, Mari and Kabardians, Mari and Ossetians.
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http://dx.doi.org/10.2217/pgs-2020-0005 | DOI Listing |
Alzheimers Dement
December 2024
Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Background: White matter hyperintensities (WMH) are commonly observed on MRI in Alzheimer's disease (AD), but the molecular pathways underlying their relationships with the ATN biomarkers remain unclear. The aim of this study was to identify genetic variants that may modify the relationship between WMH and the ATN biomarkers.
Method: This genome-wide interaction study (GWIS) included individuals with AD, MCI, and normal cognition from ADNI (n = 1012).
Alzheimers Dement
December 2024
Flanders Institute for Biotechnology, Antwerp, Belgium.
Background: Microglia are central players in Alzheimer's Disease (AD) pathology, but analyzing microglia states in human brain samples is challenging due to genetic diversity, postmortem delay and admixture of pathologies.
Method: To circumvent these issues, here we collected 138,577 single cell expression profiles of human stem cell derived-microglia from a xenotransplantation model of AD.
Result: Xenografted human microglia adopt a disease-associated (DAM) profile similar to that seen in mouse microglia, but display a more pronounced HLA state, likely related to antigen presentation in response to amyloid plaques.
Alzheimers Dement
December 2024
Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: Single nucleotide polymorphism (SNP)-based genetic studies have identified many risk genes for Alzheimer's disease (AD), but only explain part of the heritability. Structural variation (SVs) may account for some of this otherwise unexplained heritability. In this study, we sequenced 1,519 AD patients and 2,010 controls using 30X whole-genome sequencing (WGS).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Social Science Research Institute, Duke University, Durham, NC, USA.
Background: Results of recent analyses indicate that axon demyelination may play an important role in AD pathology. The MBP gene encodes a myelin basic protein involved in axon myelination in the nervous system including the central nervous system. Polymorphisms in this gene, as well as variations in expression, have been associated with multiple sclerosis (MS).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Columbia University, New York, NY, USA.
Background: The connection between inflammasomes and Alzheimer's disease (AD) has garnered significant interest, with emerging evidence suggesting genetic associations and functional implications. Notably, studies have reported the upregulation of inflammasome components like NLRP1, NLRP3, and Caspase-1 in AD patients. Moreover, genetic polymorphisms in inflammasome-related genes are linked to increased AD risk.
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