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https://www.readbyqxmd.com/read/29885764/a-longitudinal-imaging-genetics-study-of-neuroanatomical-asymmetry-in-alzheimer-s-disease
#1
Christian Wachinger, Kwangsik Nho, Andrew J Saykin, Martin Reuter, Anna Rieckmann
BACKGROUND: Contralateral brain structures represent a unique, within-patient reference element for disease, and asymmetries can provide a personalized measure of the accumulation of past disease processes. Neuroanatomical shape asymmetries have recently been associated with the progression of Alzheimer's disease (AD), but the biological basis of asymmetric brain changes in AD remains unknown. METHODS: We investigated genetic influences on brain asymmetry by identifying associations between magnetic resonance imaging-derived measures of asymmetry and candidate single nucleotide polymorphisms (SNPs) that have previously been identified in genome-wide association studies for AD diagnosis and for brain subcortical volumes...
May 9, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29872490/genome-wide-significant-risk-factors-on-chromosome-19-and-the-apoe-locus
#2
Sonia Moreno-Grau, Isabel Hernández, Stefanie Heilmann-Heimbach, Susana Ruiz, Maitée Rosende-Roca, Ana Mauleón, Liliana Vargas, Octavio Rodríguez-Gómez, Montserrat Alegret, Ana Espinosa, Gemma Ortega, Nuria Aguilera, Carla Abdelnour, Alzheimer's Disease Neuroimaging Initiative, Silvia Gil, Wolfgang Maier, Oscar Sotolongo-Grau, Lluís Tárraga, Alfredo Ramirez, Jesús López-Arrrieta, Carmen Antúnez, Manuel Serrano-Ríos, Mercè Boada, Agustín Ruiz
The apolipoprotein E ( APOE ) gene on chromosome 19q13.32, was the first, and remains the strongest, genetic risk factor for Alzheimer's disease (AD). Additional signals associated with AD have been located in chromosome 19, including ABCA7 (19p13.3) and CD33 ( 19q13.41). The ABCA7 gene has been replicated in most populations. However, the contribution to AD of other signals close to APOE gene remains controversial. Possible explanations for inconsistency between reports include long range linkage disequilibrium (LRLD)...
May 15, 2018: Oncotarget
https://www.readbyqxmd.com/read/29782324/meta-analysis-of-the-association-between-variants-in-abca7-and-alzheimer-s-disease
#3
Fang-Chen Ma, Hui-Fu Wang, Xi-Peng Cao, Chen-Chen Tan, Lan Tan, Jin-Tai Yu
The ATP-binding cassette transporter A7 (ABCA7) was identified as a known risk factor for Alzheimer's disease (AD). However, the relation between ABCA7 and AD was still inconsistent across these studies. Here, our meta-analysis aimed at confirming the association of ABCA7 with AD. Finally, 16 case-control studies (63747 versus 85833) were retrieved from PubMed and other databases. Three common loci were confirmed to increase the risk of AD (rs3764650: OR = 1.20, 95% CI = 1.16-1.24; rs3752246: OR = 1...
May 16, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29750252/whole-exome-sequencing-of-an-exceptional-longevity-cohort
#4
Haakon B Nygaard, E Zeynep Erson-Omay, Xiujuan Wu, Brianne A Kent, Cecily Q Bernales, Daniel M Evans, Matthew J Farrer, Carles Vilariño-Güell, Stephen M Strittmatter
Centenarians represent a unique cohort to study the genetic basis for longevity and factors determining the risk of neurodegenerative disorders, including Alzheimer's disease (AD). The estimated genetic contribution to longevity is highest in centenarians and supercententenarians, but few genetic variants have been shown to clearly impact this phenotype. While the genetic risk for AD and other dementias is now well understood, the frequency of known dementia risk variants in centenarians is not fully characterized...
May 10, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29723294/probing-the-role-of-ppar%C3%AE-in-the-regulation-of-late-onset-alzheimer-s-disease-associated-genes
#5
Julio Barrera, Shobana Subramanian, Ornit Chiba-Falek
Peroxisome proliferator-activated receptor-γ (PPARγ), is a transcription factor that governs pathways, such as lipid metabolism and immune response, that have been implicated in the etiology of LOAD. Previously, we established HepG2-derived cell-lines with stable knockdown of PPARγ gene, and showed an increase in mRNA levels of genes mapped in the APOE linkage disequilibrium (LD) region on chromosome 19q13.32, with the greatest effect observed for APOE-mRNA. Here, we extended the analysis using our PPARγ knockdown model system and investigated the broader effect on expression changes of genes implicated in LOAD via genome wide association studies (GWAS)...
2018: PloS One
https://www.readbyqxmd.com/read/29589097/an-intronic-vntr-affects-splicing-of-abca7-and-increases-risk-of-alzheimer-s-disease
#6
Arne De Roeck, Lena Duchateau, Jasper Van Dongen, Rita Cacace, Maria Bjerke, Tobi Van den Bossche, Patrick Cras, Rik Vandenberghe, Peter P De Deyn, Sebastiaan Engelborghs, Christine Van Broeckhoven, Kristel Sleegers
Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer's disease (AD). The influence of other genetic variants in ABCA7 and downstream functional mechanisms, however, is poorly understood. To address this knowledge gap, we investigated tandem repetitive regions in ABCA7 in a Belgian cohort of 1529 AD patients and control individuals and identified an intronic variable number tandem repeat (VNTR). We observed strong association between VNTR length and a genome-wide associated signal for AD in the ABCA7 locus...
June 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29577078/rare-abca7-variants-in-2-german-families-with-alzheimer-disease
#7
Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G Schneider, Matthias Riemenschneider
Objective: The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing. Methods: Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for rare, likely pathogenic variants in genes already known to be associated with AD and confirmed by Sanger sequencing using standard protocols. Results: We identified 2 rare ABCA7 variants (rs143718918 and rs538591288) with varying penetrance in 2 independent German AD families, respectively...
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29504051/updated-meta-analysis-of-bin1-cr1-ms4a6a-clu-and-abca7-variants-in-alzheimer-s-disease
#8
Jucimara Ferreira Figueiredo Almeida, Lígia Ramos Dos Santos, Maira Trancozo, Flavia de Paula
Genome-wide association studies (GWAS) have associated several genetic variants with late-onset Alzheimer's disease (LOAD), a neurodegenerative disease. Among those, rs3764650 ABCA7, rs6656401 CR1, and rs744373 BIN1 were associated as risk factors for LOAD, while rs11136000 CLU and rs610932 MS4A6A were protective. Recently, several case-control studies have investigated the association of these polymorphisms with AD. However, not all meta-analyses analyzed these variants across different ethnic groups. Therefore, we performed an updated meta-analysis of rs3764650 ABCA7, rs6656401 CR1, rs744373 BIN1, rs11136000 CLU, and rs610932 MS4A6A variants associated with LOAD, considering different ethnic populations...
March 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29441941/atp-binding-cassette-subfamily-a-member-7-rs3764650-polymorphism-and-the-risk-of-alzheimer-s-disease
#9
Guang Zhou, Xiaoqin Mao, Jiaqi Chu, Gang Chen, Qiang Zhao, Leili Wang, Yanping Luo
We did a meta-analysis to assess the association between ABCA7 rs3764650 polymorphism and the risk of Alzheimer's Disease (AD). A total of 10 eligible studies with 20511 patients and 40503 controls met the inclusion criteria. ABCA7 rs3764650 polymorphism was significantly associated with AD risk (OR=1.21, 95% CI 1.16-1.26, P<0.00001; I2=5%). In the subgroup analysis by race, statistically significant associations were found in Asians (OR=1.09, 95% CI 1.01-1.18, P =0.03; I2=0%) and in Caucasians (OR=1.25, 95% CI 1...
July 3, 2017: Die Pharmazie
https://www.readbyqxmd.com/read/29401741/abca7-and-pathogenic-pathways-of-alzheimer-s-disease
#10
REVIEW
Tomonori Aikawa, Marie-Louise Holm, Takahisa Kanekiyo
The ATP-binding cassette (ABC) reporter family functions to regulate the homeostasis of phospholipids and cholesterol in the central nervous system, as well as peripheral tissues. ABCA7 belongs to the A subfamily of ABC transporters, which shares 54% sequence identity with ABCA1. While ABCA7 is expressed in a variety of tissues/organs, including the brain, recent genome-wide association studies (GWAS) have identified ABCA7 gene variants as susceptibility loci for late-onset Alzheimer's disease (AD). More important, subsequent genome sequencing analyses have revealed that premature termination codon mutations in ABCA7 are associated with the increased risk for AD...
February 5, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29397389/recent-studies-on-cellular-and-molecular-mechanisms-in-alzheimer-s-disease-focus-on-epigenetic-factors-and-histone-deacetylase
#11
Harikesh Dubey, Kavita Gulati, Arunabha Ray
Alzheimer's disease (AD) is one of the most common neurodegenerative disorders mainly affecting elderly people. It is characterized by progressive loss of memory and cognitive function. More than 95% of AD cases are related to sporadic or late-onset AD (LOAD). The etiology of LOAD is still unclear. It has been reported that environmental factors and epigenetic alterations play a significant role in AD pathogenesis. Furthermore, recently, genome-wide association studies (GWAS) identified 10 novel risk genes: ABCA7, APOE, BIN1, CD2AP, CD33, CLU, CR1, MS4A6A, MS4A4E, and PICALM, which play an important role for LOAD...
March 28, 2018: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/29376091/-abca7-and-risk-of-dementia-and-vascular-disease-in-the-danish-population
#12
Emilie W Kjeldsen, Anne Tybjærg-Hansen, Børge G Nordestgaard, Ruth Frikke-Schmidt
Objective: ATP-binding-cassette transporter A7( ABCA7 ) is suggested to be involved in lipid transport as well as in phagocytosis of amyloid- β in the brain. We tested the hypothesis that a common genetic variant in ABCA7 is associated with dementia, ischemic heart disease, ischemic cerebrovascular disease, and with lipid levels in the general population, independent of the common apolipoprotein E( APOE ) genotype. Methods: For this purpose, we genotyped a common genetic variant in ABCA7, identified in genome-wide-association-studies of Alzheimer's disease, in 104,258 individuals from the Danish general population, and also meta-analyzed our results with publicly available consortia data...
January 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29340569/associations-of-the-top-20-alzheimer-disease-risk-variants-with-brain-amyloidosis
#13
Liana G Apostolova, Shannon L Risacher, Tugce Duran, Eddie C Stage, Naira Goukasian, John D West, Triet M Do, Jonathan Grotts, Holly Wilhalme, Kwangsik Nho, Meredith Phillips, David Elashoff, Andrew J Saykin
Importance: Late-onset Alzheimer disease (AD) is highly heritable. Genome-wide association studies have identified more than 20 AD risk genes. The precise mechanism through which many of these genes are associated with AD remains unknown. Objective: To investigate the association of the top 20 AD risk variants with brain amyloidosis. Design, Setting, and Participants: This study analyzed the genetic and florbetapir F 18 data from 322 cognitively normal control individuals, 496 individuals with mild cognitive impairment, and 159 individuals with AD dementia who had genome-wide association studies and 18F-florbetapir positron emission tomographic data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), a prospective, observational, multisite tertiary center clinical and biomarker study...
March 1, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29181857/whole-exome-sequencing-of-the-bdr-cohort-evidence-to-support-the-role-of-the-pilra-gene-in-alzheimer-s-disease
#14
T Patel, K J Brookes, J Turton, S Chaudhury, T Guetta-Baranes, R Guerreiro, J Bras, D Hernandez, A Singleton, P T Francis, J Hardy, K Morgan
AIM: Late-onset Alzheimer's disease (LOAD) accounts for 95% of all Alzheimer's cases and is genetically complex in nature. Overlapping clinical and neuropathological features between AD, FTD and Parkinson's disease highlight the potential role of genetic pleiotropy across diseases. Recent genome-wide association studies (GWASs) have uncovered 20 new loci for AD risk; however, these exhibit small effect sizes. Using NGS, here we perform association analyses using exome-wide and candidate-gene-driven approaches...
November 27, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29151946/gene-expression-profiling-reveals-novel-candidate-markers-of-ovarian-carcinoma-intraperitoneal-metastasis
#15
Katerina Elsnerova, Alena Bartakova, Josef Tihlarik, Jiri Bouda, Lukas Rob, Petr Skapa, Martin Hruda, Ivan Gut, Beatrice Mohelnikova-Duchonova, Pavel Soucek, Radka Vaclavikova
Epithelial ovarian cancer (EOC) has the highest mortality among gynecological carcinomas. The lack of specific markers for prognostic determination of EOC progression hinders the search for novel effective therapies. The aim of the present study was (i) to explore differences in expressions of ATP-binding cassette (ABC) and solute carrier (SLC) transporter genes, genes associated with drug metabolism and cell cycle regulation between control ovarian tissues (n = 14), primary EOCs (n = 44) and intraperitoneal metastases (n = 29); (ii) to investigate associations of gene expression levels with prognosis of patients with intraperitoneal metastases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29111006/a-complex-association-between-abca7-genotypes-and-blood-lipid-levels-in-southern-chinese-han-patients-of-sporadic-alzheimer-s-disease
#16
Hui Li, Jinxia Zhou, Zongwei Yue, Li Feng, Zhaohui Luo, Si Chen, Xiaosu Yang, Bo Xiao
Alzheimer's disease (AD) is the most common neurodegenerative disease characterized by progressive cognitive decline. It can be divided into familial AD (FAD) and sporadic AD (SAD) based on the family history. Recently dysregulation of cholesterol homeostasis has been implicated in the development of late-onset AD. ATP-binding cassette transporter A7 (ABCA7) gene, regulating the transport of cholesterol, has been recently identified as a susceptible gene of AD by several large genome-wide association studies...
November 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29073110/m344-promotes-nonamyloidogenic-amyloid-precursor-protein-processing-while-normalizing-alzheimer-s-disease-genes-and-improving-memory
#17
Claude-Henry Volmar, Hasib Salah-Uddin, Karolina J Janczura, Paul Halley, Guerline Lambert, Andrew Wodrich, Sivan Manoah, Nidhi H Patel, Gregory C Sartor, Neil Mehta, Nancy T H Miles, Sachi Desse, David Dorcius, Michael D Cameron, Shaun P Brothers, Claes Wahlestedt
Alzheimer's disease (AD) comprises multifactorial ailments for which current therapeutic strategies remain insufficient to broadly address the underlying pathophysiology. Epigenetic gene regulation relies upon multifactorial processes that regulate multiple gene and protein pathways, including those involved in AD. We therefore took an epigenetic approach where a single drug would simultaneously affect the expression of a number of defined AD-related targets. We show that the small-molecule histone deacetylase inhibitor M344 reduces beta-amyloid (Aβ), reduces tau Ser396 phosphorylation, and decreases both β-secretase (BACE) and APOEε4 gene expression...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28984604/alzheimer-s-disease-related-polymorphisms-in-shunt-responsive-idiopathic-normal-pressure-hydrocephalus
#18
Joel Huovinen, Seppo Helisalmi, Jussi Paananen, Tiina Laiterä, Maria Kojoukhova, Anna Sutela, Ritva Vanninen, Marjo Laitinen, Tuomas Rauramaa, Anne M Koivisto, Anne M Remes, Hilkka Soininen, Mitja Kurki, Annakaisa Haapasalo, Juha E Jääskeläinen, Mikko Hiltunen, Ville Leinonen
BACKGROUND: Idiopathic normal pressure hydrocephalus (iNPH) is a late onset, surgically treated progressive brain disease caused by impaired cerebrospinal fluid dynamics and subsequent ventriculomegaly. Comorbid Alzheimer's disease (AD) seems to be frequent in iNPH. OBJECTIVE: We aim to evaluate the role of AD-related polymorphisms in iNPH. METHODS: Overall 188 shunt-operated iNPH patients and 688 controls without diagnosed neurodegenerative disease were included into analysis...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28789839/contribution-to-alzheimer-s-disease-risk-of-rare-variants-in-trem2-sorl1-and-abca7-in-1779-cases-and-1273-controls
#19
Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, Olivier Quenez, Kilan Le Guennec, Gaël Nicolas, Ganesh Chauhan, David Wallon, Stéphane Rousseau, Anne Claire Richard, Anne Boland, Guillaume Bourque, Hans Markus Munter, Robert Olaso, Vincent Meyer, Adeline Rollin-Sillaire, Florence Pasquier, Luc Letenneur, Richard Redon, Jean-François Dartigues, Christophe Tzourio, Thierry Frebourg, Mark Lathrop, Jean-François Deleuze, Didier Hannequin, Emmanuelle Genin, Philippe Amouyel, Stéphanie Debette, Jean-Charles Lambert, Dominique Campion
We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France. We assessed the evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein-truncating and missense-predicted damaging variants, we found exome-wide significant association between EOAD risk and rare variants in SORL1, TREM2, and ABCA7. No exome-wide significant signal was obtained in the LOAD sample, and significance of the order of 10-6 was observed in the whole AD group for TREM2...
November 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28689405/quantitative-analysis-of-human-red-blood-cell-proteome
#20
Agata H Bryk, Jacek R Wiśniewski
Red blood cells (RBCs) are the most abundant cell type in the human body. RBCs and, in particular, their plasma membrane composition have been extensively studied for many years. During the past decade proteomics studies have extended our knowledge on RBC composition; however, these studies did not provide quantitative insights. Here we report a large-scale proteomics investigation of RBCs and their "white ghost" membrane fraction. Samples were processed using the multienzyme digestion filter-aided sample preparation (MED-FASP) and analyzed using Q-Exactive mass spectrometer...
July 24, 2017: Journal of Proteome Research
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