| 1. |
- Escott-Price, Valentina, et al.
(författare)
-
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
|
|
| 2. |
- Jones, Lesley, et al.
(författare)
-
Convergent genetic and expression data implicate immunity in Alzheimer's disease
- 2015
-
Ingår i: Alzheimer's & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 11:6, s. 658-671
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 X 10(-12) after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 X 10(-11)), cholesterol transport (P = 2.96 X 10(-9)), and proteasome-ubiquitin activity (P = 1.34 X 10(-6)). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002-.05). Conclusions: The immime response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
|
|
| 3. |
- Thomas, Enlli, et al.
(författare)
-
Working towards diagnosing bilingual children's language abilities : issues for teachers in Wales
- 2022
-
Ingår i: Cylchgrawn Addysg Cymru / Wales Journal of Education. - : University of Wales Press. - 2059-3708 .- 2059-3716. ; 24:2, s. 50-73
-
Tidskriftsartikel (refereegranskat)abstract
- One area of concern within a bilingual context relates to the appropriate‘diagnostic’ assessment of bilingual children’s language abilities and to thesuitable application of their assessment results in practice. Communicationand language difficulties are numerous and complex, and manifest themselvesin a variety of ways that are captured to different degrees via standardisedtests. Such tools are readily available – often in multiple forms – in somelanguages, such as English, but less readily available in others. This is particu-larly the case for minority languages such as Welsh, and this poses greatdifficulty when aiming for a certain type of assessment of specific languageabilities. This paper outlines the current state of diagnostic assessment toolsfor Welsh, with a specific focus on measures of literacy abilities. Drawing onresearch evidence from the Welsh context, we argue for appropriate trainingof educators in this area, and for the urgent need to develop tools that are bothlanguage and context specific, with relevant bilingual speaker norms, thathave practical applications in the classroom, to ensure equitable and relevantdiagnosis and support for all children educated in Wales.
|
|
