ABCA7
- Known as:
- ABCA7
- Catalog number:
- 000889A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCA7
Related genes to: ABCA7
- Gene:
- ABCA7 NIH gene
- Name:
- ATP binding cassette subfamily A member 7
- Previous symbol:
- -
- Synonyms:
- ABCX
- Chromosome:
- 19p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-06-11
- Date modifiied:
- 2019-03-21
Related products to: ABCA7
Related articles to: ABCA7
- Copy-number variants (CNVs) are major contributors to human disease. In Alzheimer disease (AD), APP duplications cause autosomal-dominant forms, but the role of CNVs in non-monogenic AD remains poorly characterized. We analyzed rare CNVs (frequency <1%) from 22,319 exomes (4,150 early-onset AD [EOAD, ≤65 years], 8,519 late-onset AD [LOAD], 9,650 unaffected control subjects) using harmonized calling and quality control. After identifying 17 individuals with a pathogenic CNV, we performed exome-wide and gene-set burden analyses. EOAD-affected individuals showed increased burdens of rare CNVs affecting coding genes, particularly deletions in AD-related genes. Integrated loss-of-function (LoF) analysis gathering short truncating variants with deletions showed that ABCA1 (odds ratio [OR] = 5.77 [95% confidence interval 2.25; 17.06], p = 0.0002) and ABCA7 deletions contribute to this deletion burden (OR = 2.29 [1.44; 3.65], p = 0.0006), while CTSB LoF alleles appear as candidates (OR = 5.03 [1.50; 20.71], p = 0.0089). We then performed exome-wide gene-level dosage analysis and highlighted 18 genes across five loci with a false discovery rate of <10%, including the 22q11.21 central region, where deletions were restricted to EOAD (including one de novo event) and duplications were enriched in control individuals, with intermediate frequencies in LOAD. We narrowed this locus to the SCARF2-KLHL22-MED15 region after integrating short truncating variants. Replication in 33,977 affected individuals and 362,322 control subjects confirmed association for 22q11.21 dosage with exome-wide significance (OR = 0.34 [0.21; 0.53]; mega-p value = 5.52 × 10). SCARF2 overexpression significantly increased amyloid-β uptake, congruent with duplication-associated decreased AD risk. We conclude that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 deletions, including some found in DiGeorge syndrome, increase AD risk. Conversely, we identify 22q11.21 duplication as a strong AD-risk-decreasing factor. - Source: PubMed
Publication date: 2026/08/26
Quenez OlivierSchramm CatherineCassinari KévinNicolas AudeGroeneveld JoanHuguet GuillaumeGrenier-Boley BenjaminHulsman MarcWalters G Bragide Rojas ItziarRovelet-Lecrux AnneFeuillette SébastienMiguel LaetitiaRichard Anne-ClaireRousseau StéphaneAhmad ShahzadAmin NajafAmouyel PhilippeBelbin OliviaBellenguez CélineBerr ClaudineBossù PaolaBouwman FemkeBras JoseClarimon JordiDaniele AntonioDartigues Jean-FrançoisDebette StéphanieDeleuze Jean-FrançoisDenning NicolaDols-Icardo Oriolvan Duijn Cornelia MFortea JuanFox Nick CFrikke-Schmidt RuthGalimberti DanielaGhidoni RobertaGiedraitis VilmantasGille Johan J PGrozeva DetelinaGuerreiro RitaGrünblatt EdnaHardy JohnRiedel-Heller Steffi GHiltunen MikkoHolmes CliveHort JakubHummerich HolgerIkram M ArfanIkram M KamranIngelsson MartinJansen Iris EKawalia AmitKraaij RobertKehoe Patrick GLathrop MarcLacour MorganeLemstra Afina WLleó AlbertoLuckcuck LaurenMannens Marcel M A MMarshall RachelMasullo CarloMead SimonMecocci Patriziade Mendonça AlexandreMeggy AlunMehrabian ShimaMol Merel OMorgan KevinMorin AlexandreNacmias BenedettaNorsworthy Penny JOlaso RobertPasquier FlorencePastor PauPiras FabrizioPopp JuliusRamirez AlfredoRaybould RachelRedon RichardReinders Marcel J TRivadeneira Fernandovan Rooij Jeroen G JRyan Natalie SSaad SalhaSanchez-Juan PascualScarmeas NikolaosScheltens PhilipSchott Jonathan MSeripa DavideSie DaoudSims RebeccaSistermans Erik ASorbi SandroSleegers Kristelvan Spaendonk Resievan Swieten John CTesi Niccolo'Tijms Betty MTsolaki MagdaUitterlinden André GVijverberg JortVisser Pieter JelleWagner MichaelWilliams JulieZarea Aline Génin EmmanuelleHolstege HenneGudbjartsson Daniel FWallon DavidLecourtois MagalieFernandez Maria VictoriaStefansson HreinnJacquemont SébastienLambert Jean-Charlesvan der Lee Sven JCharbonnier CamilleNicolas Gaël - Alzheimer's Disease (AD) is the most common cause of dementia worldwide and a chronic neurodegenerative disorder with well-established pathophysiological mechanisms. In Colombia, its prevalence is increasing, but in the southwestern region, information on its clinical course is scarce, limiting adequate care and public health strategies. This study aimed to describe the frequency and characteristics of genetic variants in AD candidate genes in a population in southwestern Colombia without a clinical diagnosis of the disease. - Source: PubMed
Publication date: 2026/08/03
Martinez Liliana DozaOrtiz Rojas Helen JohanaLoaiza Jorge Hernán IzquierdoTerranova Daniela ArturoGarcía FelipeSatizabal José María - Compromised vascular health is increasingly linked to Alzheimer's disease (AD) risk. Estimated pulse wave velocity (ePWV), derived from age and blood pressure, and provides a practical, non-invasive index of vascular stiffness and overall vascular health. Older African Americans experience a disproportionate burden of vascular disease and AD. Genetic risk factors such as APOE ε4 and ABCA7-80 (rs115550680) further increase AD susceptibility. However, whether these genetic risks influence vascular stiffness and how that may interact with AD pathology remains unknown, especially in African Americans. - Source: PubMed
Publication date: 2026/08/11
Budak MirayHeffernan Kevin SIshaq MartinaParuzel VictoriaAbdalla DemianaMoallemian SoodehFausto Bernadette AElahi Fanny MGluck Mark A - Alzheimer's disease (AD) and type 2 diabetes mellitus (T2DM) share overlapping pathological mechanisms characterized by neuroinflammation and metabolic dysfunction, yet the underlying mechanisms remain elusive. In this study, we aimed to investigate the potential involvement of Abca7 in the microglial responses linking AD and T2DM. Single-cell RNA sequencing (scRNA-seq) data from the hippocampi of db/db and db/m mice were analyzed to characterize cellular heterogeneity. To validate the bioinformatic findings, an AD mouse model was established by a single intracerebroventricular injection of Aβ1-42. Behavioral performances were observed, and the protein expression of Abca7 and typical neuropathological features of AD were detected. In parallel, in vitro studies were conducted using BV2 microglial cells exposed to Aβ1-42 following Abca7 knockdown. The scRNA-seq analysis revealed significant alterations in endothelial cells, microglia, and oligodendrocytes in db/db mice. Microglia emerged as central regulators of neuroinflammatory responses, with Abca7 identified as a hub gene linked to both T2DM and AD pathology. Consistently, the expression of Abca7 in the hippocampus of AD mice was markedly elevated and positively correlated with the cognitive impairments and Aβ/Tau pathology. Moreover, the knockdown of Abca7 could protect BV2 cells against Aβ-induced injuries and hyperactivation which could be partly ascribed to the suppression of NF-κB signaling and oxidative stress. Overall, these results suggest Abca7 may play a linking role in the microglial response between T2DM and AD, which is partly supported by in vivo and in vitro results of its effect on the hyperactivation of microglia in AD-like pathologies. - Source: PubMed
Publication date: 2026/07/16
Cheng MingZheng XinWei Ya-DongGe Jin-Fang - Alzheimer's disease (AD), Parkinson's disease (PD) and Lewy body dementia (LBD) overlap clinically, pathologically and genetically, complicating interpretation of cross-disorder genome-wide association study (GWAS) signals. - Source: PubMed
Publication date: 2026/07/02
Zhang YingZhang ZhishuaiQiu ShizhengHu Yang