Artikel ; Online: LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry.
Journal of neuropathology and experimental neurology
2023 Band 82, Heft 9, Seite(n) 760–768
Abstract: Limbic-predominant age-related TDP-43 encephalopathy (LATE) affects approximately one-third of older individuals and is associated with cognitive impairment. However, there is a highly incomplete understanding of the genetic determinants of LATE ... ...
Abstract | Limbic-predominant age-related TDP-43 encephalopathy (LATE) affects approximately one-third of older individuals and is associated with cognitive impairment. However, there is a highly incomplete understanding of the genetic determinants of LATE neuropathologic changes (LATE-NC) in diverse populations. The defining neuropathologic feature of LATE-NC is TDP-43 proteinopathy, often with comorbid hippocampal sclerosis (HS). In terms of genetic risk factors, LATE-NC and/or HS are associated with single nucleotide variants (SNVs) in 3 genes-TMEM106B (rs1990622), GRN (rs5848), and ABCC9 (rs1914361 and rs701478). We evaluated these 3 genes in convenience samples of individuals of African ancestry. The allele frequencies of the LATE-associated alleles were significantly different between persons of primarily African (versus European) ancestry: In persons of African ancestry, the risk-associated alleles for TMEM106B and ABCC9 were less frequent, whereas the risk allele in GRN was more frequent. We performed an exploratory analysis of data from African-American subjects processed by the Alzheimer's Disease Genomics Consortium, with a subset of African-American participants (n = 166) having corroborating neuropathologic data through the National Alzheimer's Coordinating Center (NACC). In this limited-size sample, the ABCC9/rs1914361 SNV was associated with HS pathology. More work is required concerning the genetic factors influencing non-Alzheimer disease pathology such as LATE-NC in diverse cohorts. |
---|---|
Mesh-Begriff(e) | Humans ; Alleles ; Aging/pathology ; Polymorphism, Single Nucleotide/genetics ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; TDP-43 Proteinopathies/pathology ; Progranulins/genetics ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Sulfonylurea Receptors/genetics |
Chemische Substanzen | GRN protein, human ; Progranulins ; TMEM106B protein, human ; Membrane Proteins ; Nerve Tissue Proteins ; ABCC9 protein, human ; Sulfonylurea Receptors |
Sprache | Englisch |
Erscheinungsdatum | 2023-08-01 |
Erscheinungsland | England |
Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, N.I.H., Extramural |
ZDB-ID | 3088-0 |
ISSN | 1554-6578 ; 0022-3069 |
ISSN (online) | 1554-6578 |
ISSN | 0022-3069 |
DOI | 10.1093/jnen/nlad059 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Zusatzmaterialien
Kategorien
Verfügbar in ZB MED Köln/Königswinter
Ui II Zs.134: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
|||
Ui II Zs.194: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.