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https://www.readbyqxmd.com/read/29413716/proteomic-profiling-of-epileptogenesis-in-a-rat-model-focus-on-cell-stress-extracellular-matrix-and-angiogenesis
#1
Michael Keck, Roelof Maarten van Dijk, Cornelia A Deeg, Katharina Kistler, Andreas Walker, Eva-Lotta von Rüden, Vera Russmann, Stefanie M Hauck, Heidrun Potschka
Information about epileptogenesis-associated changes in protein expression patterns is of particular interest for future selection of target and biomarker candidates. Bioinformatic analysis of proteomic data sets can increase our knowledge about molecular alterations characterizing the different phases of epilepsy development following an initial epileptogenic insult. Here, we report findings from a focused analysis of proteomic data obtained for the hippocampus and parahippocampal cortex samples collected during the early post-insult phase, latency phase, and chronic phase of a rat model of epileptogenesis...
April 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29340569/associations-of-the-top-20-alzheimer-disease-risk-variants-with-brain-amyloidosis
#2
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/29337051/fermt2-links-cortical-actin-structures-plasma-membrane-tension-and-focal-adhesion-function-to-stabilize-podocyte-morphology
#3
M Yasuda-Yamahara, M Rogg, J Frimmel, P Trachte, M Helmstaedter, P Schroder, M Schiffer, C Schell, T B Huber
Simplification and retraction of podocyte protrusions, generally termed as foot process effacement, is a uniform pathological pattern observed in the majority of glomerular disease, including focal segmental glomerulosclerosis. However, it is still incompletely understood how the interaction of cortical actin structures, actomyosin contractility and focal adhesions, is being orchestrated to control foot process morphology in health and disease. By uncovering the functional role of fermitin family member 2 (FERMT2 or kindlin-2) in podocytes, we provide now evidence, how cell-extracellular matrix (ECM) interactions modulate membrane tension and actomyosin contractility...
January 11, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29310965/evaluation-of-primary-angle-closure-glaucoma-susceptibility-loci-in-patients-with-early-stages-of-angle-closure-disease
#4
Monisha E Nongpiur, Ching-Yu Cheng, Roopam Duvesh, Saravanan Vijayan, Mani Baskaran, Chiea-Chuen Khor, John Allen, Srinivasan Kavitha, Rengaraj Venkatesh, David Goh, Rahat Husain, Pui Yi Boey, Desmond Quek, Ching Lin Ho, Tina T Wong, Shamira Perera, Tien Yin Wong, Subbiah R Krishnadas, Periasamy Sundaresan, Tin Aung, Eranga N Vithana
PURPOSE: To investigate whether newly identified genetic loci for primary angle-closure glaucoma (PACG) are associated with early stage angle-closure disease defined as primary angle closure suspect (PACS). DESIGN: Case-control study. PARTICIPANTS: A total of 1397 PACS patients and 943 controls of Chinese ethnicity from Singapore and 604 PACS patients and 287 controls of Indian ethnicity. METHODS: The 8 PACG single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 son chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were genotyped by Taqman assays...
January 5, 2018: Ophthalmology
https://www.readbyqxmd.com/read/28984604/alzheimer-s-disease-related-polymorphisms-in-shunt-responsive-idiopathic-normal-pressure-hydrocephalus
#5
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/28687620/kindlin-2-regulates-the-growth-of-breast-cancer-tumors-by-activating-csf-1-mediated-macrophage-infiltration
#6
Khalid Sossey-Alaoui, Elzbieta Pluskota, Katarzyna Bialkowska, Dorota Szpak, Yvonne Parker, Chevaun D Morrison, Daniel J Lindner, William P Schiemann, Edward F Plow
Interplay between tumor cells and host cells in the tumor microenvironment dictates the development of all cancers. In breast cancer, malignant cells educate host macrophages to adopt a protumorigenic phenotype. In this study, we show how the integrin-regulatory protein kindlin-2 (FERMT2) promotes metastatic progression of breast cancer through the recruitment and subversion of host macrophages. Kindlin-2 expression was elevated in breast cancer biopsy tissues where its levels correlated with reduced patient survival...
September 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28505344/genetics-of-glaucoma
#7
REVIEW
Janey L Wiggs, Louis R Pasquale
Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations...
August 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28325852/extended-multiplexing-of-tandem-mass-tags-tmt-labeling-reveals-age-and-high-fat-diet-specific-proteome-changes-in-mouse-epididymal-adipose-tissue
#8
Deanna L Plubell, Phillip A Wilmarth, Yuqi Zhao, Alexandra M Fenton, Jessica Minnier, Ashok P Reddy, John Klimek, Xia Yang, Larry L David, Nathalie Pamir
The lack of high-throughput methods to analyze the adipose tissue protein composition limits our understanding of the protein networks responsible for age and diet related metabolic response. We have developed an approach using multiple-dimension liquid chromatography tandem mass spectrometry and extended multiplexing (24 biological samples) with tandem mass tags (TMT) labeling to analyze proteomes of epididymal adipose tissues isolated from mice fed either low or high fat diet for a short or a long-term, and from mice that aged on low versus high fat diets...
May 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28269768/late-onset-alzheimer-s-disease-risk-variants-in-cognitive-decline-the-path-through-life-study
#9
Shea J Andrews, Debjani Das, Kaarin J Anstey, Simon Easteal
Recent genome wide association studies have identified a number of single nucleotide polymorphisms associated with late onset Alzheimer's disease (LOAD). We examined the associations of 24 LOAD risk loci, individually and collectively as a genetic risk score, with cognitive function. We used data from 1,626 non-demented older Australians of European ancestry who were examined up to four times over 12 years on tests assessing episodic memory, working memory, vocabulary, and information processing speed. Linear mixed models were generated to examine associations between genetic factors and cognitive performance...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28247064/genome-wide-association-study-identifies-four-novel-loci-associated-with-alzheimer-s-endophenotypes-and-disease-modifiers
#10
Yuetiva Deming, Zeran Li, Manav Kapoor, Oscar Harari, Jorge L Del-Aguila, Kathleen Black, David Carrell, Yefei Cai, Maria Victoria Fernandez, John Budde, Shengmei Ma, Benjamin Saef, Bill Howells, Kuan-Lin Huang, Sarah Bertelsen, Anne M Fagan, David M Holtzman, John C Morris, Sungeun Kim, Andrew J Saykin, Philip L De Jager, Marilyn Albert, Abhay Moghekar, Richard O'Brien, Matthias Riemenschneider, Ronald C Petersen, Kaj Blennow, Henrik Zetterberg, Lennart Minthon, Vivianna M Van Deerlin, Virginia Man-Yee Lee, Leslie M Shaw, John Q Trojanowski, Gerard Schellenberg, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Lindsay A Farrer, Elaine R Peskind, Ge Li, Antonio F Di Narzo, John S K Kauwe, Alison M Goate, Carlos Cruchaga
More than 20 genetic loci have been associated with risk for Alzheimer's disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms. Genetic studies using intermediate quantitative traits such as biomarkers, or endophenotypes, benefit from increased statistical power to identify variants that may not pass the stringent multiple test correction in case-control studies. Endophenotypes also contain additional information helpful for identifying variants and genes associated with other aspects of disease, such as rate of progression or onset, and provide context to interpret the results from genome-wide association studies (GWAS)...
May 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28199971/association-and-interaction-effects-of-alzheimer-s-disease-associated-genes-and-lifestyle-on-cognitive-aging-in-older-adults-in-a-taiwanese-population
#11
Eugene Lin, Shih-Jen Tsai, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Chung-Feng Kao
Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes. In this study, we assessed whether single nucleotide polymorphisms (SNPs) within these 27 AD-associatedgenes are linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/27933404/genome-wide-high-content-sirna-screening-identifies-the-alzheimer-s-genetic-risk-factor-fermt2-as-a-major-modulator-of-app-metabolism
#12
Julien Chapuis, Amandine Flaig, Benjamin Grenier-Boley, Fanny Eysert, Virginie Pottiez, Gaspard Deloison, Alexandre Vandeputte, Anne-Marie Ayral, Tiago Mendes, Shruti Desai, Alison M Goate, John S K Kauwe, Florence Leroux, Adrien Herledan, Florie Demiautte, Charlotte Bauer, Fréderic Checler, Ronald C Petersen, Kaj Blennow, Henrik Zetterberg, Lennart Minthon, Vivianna M Van Deerlin, Virginia Man-Yee Lee, Leslie M Shaw, John Q Trojanowski, Marilyn Albert, Abhay Moghekar, Richard O'Brien, Elaine R Peskind, Nicolas Malmanche, Gerard D Schellenberg, Pierre Dourlen, Ok-Ryul Song, Carlos Cruchaga, Philippe Amouyel, Benoit Deprez, Priscille Brodin, Jean-Charles Lambert
Genome-wide association studies (GWASs) have identified 19 susceptibility loci for Alzheimer's disease (AD). However, understanding how these genes are involved in the pathophysiology of AD is one of the main challenges of the "post-GWAS" era. At least 123 genes are located within the 19 susceptibility loci; hence, a conventional approach (studying the genes one by one) would not be time- and cost-effective. We therefore developed a genome-wide, high-content siRNA screening approach and used it to assess the functional impact of gene under-expression on APP metabolism...
June 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/27484700/mapping-epigenetic-changes-to-the-host-cell-genome-induced-by-burkholderia-pseudomallei-reveals-pathogen-specific-and-pathogen-generic-signatures-of-infection
#13
Deniz Cizmeci, Emma L Dempster, Olivia L Champion, Sariqa Wagley, Ozgur E Akman, Joann L Prior, Orkun S Soyer, Jonathan Mill, Richard W Titball
The potential for epigenetic changes in host cells following microbial infection has been widely suggested, but few examples have been reported. We assessed genome-wide patterns of DNA methylation in human macrophage-like U937 cells following infection with Burkholderia pseudomallei, an intracellular bacterial pathogen and the causative agent of human melioidosis. Our analyses revealed significant changes in host cell DNA methylation, at multiple CpG sites in the host cell genome, following infection. Infection induced differentially methylated probes (iDMPs) showing the greatest changes in DNA methylation were found to be in the vicinity of genes involved in inflammatory responses, intracellular signalling, apoptosis and pathogen-induced signalling...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27371493/relation-of-genomic-variants-for-alzheimer-disease-dementia-to-common-neuropathologies
#14
Jose M Farfel, Lei Yu, Aron S Buchman, Julie A Schneider, Philip L De Jager, David A Bennett
OBJECTIVE: To investigate the associations of previously reported Alzheimer disease (AD) dementia genomic variants with common neuropathologies. METHODS: This is a postmortem study including 1,017 autopsied participants from 2 clinicopathologic cohorts. Analyses focused on 22 genomic variants associated with AD dementia in large-scale case-control genome-wide association study (GWAS) meta-analyses. The neuropathologic traits of interest were a pathologic diagnosis of AD according to NIA-Reagan criteria, macroscopic and microscopic infarcts, Lewy bodies (LB), and hippocampal sclerosis...
August 2, 2016: Neurology
https://www.readbyqxmd.com/read/27244899/fermt2-rs17125944-polymorphism-with-alzheimer-s-disease-risk-a-replication-and-meta-analysis
#15
Qiu-Yue Zhang, Hui-Fu Wang, Zhan-Jie Zheng, Ling-Li Kong, Meng-Shan Tan, Chen-Chen Tan, Wei Zhang, Zi-Xuan Wang, Lin Tan, Jin-Tai Yu, Lan Tan
A recent meta-analysis of genome-wide association studies (GWAS) in population of Caucasian identified a single nucleotide polymorphism (SNP) rs17125944 in the FERMT2 gene as a new susceptibility locus for late-onset Alzheimer's disease (LOAD). In order to validate the association of the rs17125944 polymorphism with LOAD risk in the northern Han Chinese, we recruited a case-control study of 2338 Han Chinese subjects (984 cases and 1354 age- and gender-matched controls). Our results demonstrated that there was no significant association between the rs17125944 polymorphism and LOAD (genotype: P = 0...
June 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/27215977/mirna-dependent-target-regulation-functional-characterization-of-single-nucleotide-polymorphisms-identified-in-genome-wide-association-studies-of-alzheimer-s-disease
#16
Charlotte Delay, Benjamin Grenier-Boley, Philippe Amouyel, Julie Dumont, Jean-Charles Lambert
BACKGROUND: A growing body of evidence suggests that microRNAs (miRNAs) are involved in Alzheimer's disease (AD) and that some disease-associated genetic variants are located within miRNA binding sites. In the present study, we sought to characterize functional polymorphisms in miRNA target sites within the loci defined in earlier genome-wide association studies (GWAS). The main objectives of this study were to (1) facilitate the identification of the gene or genes responsible for the GWAS signal within a locus of interest and (2) determine how functional polymorphisms might be involved in the AD process (e...
May 24, 2016: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/27107034/induction-of-expression-and-phosphorylation-of-heat-shock-protein-b5-cryab-in-rat-myometrium-during-pregnancy-and-labour
#17
J G Nicoletti, B G White, E I Miskiewicz, D J MacPhee
During pregnancy the myometrium undergoes a programme of differentiation induced by endocrine, cellular, and biophysical inputs. Small heat shock proteins (HSPs) are a family of ten (B1-B10) small-molecular-weight proteins that not only act as chaperones, but also assist in processes such as cytoskeleton rearrangements and immune system activation. Thus, it was hypothesized that HSPB5 (CRYAB) would be highly expressed in the rat myometrium during the contractile and labour phases of myometrial differentiation when such processes are prominent...
July 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/27064256/genome-wide-association-study-identifies-five-new-susceptibility-loci-for-primary-angle-closure-glaucoma
#18
Chiea Chuen Khor, Tan Do, Hongyan Jia, Masakazu Nakano, Ronnie George, Khaled Abu-Amero, Roopam Duvesh, Li Jia Chen, Zheng Li, Monisha E Nongpiur, Shamira A Perera, Chunyan Qiao, Hon-Tym Wong, Hiroshi Sakai, Mônica Barbosa de Melo, Mei-Chin Lee, Anita S Chan, Yaakub Azhany, Thi Lam Huong Dao, Yoko Ikeda, Rodolfo A Perez-Grossmann, Tomasz Zarnowski, Alexander C Day, Jost B Jonas, Pancy O S Tam, Tuan Anh Tran, Humaira Ayub, Farah Akhtar, Shazia Micheal, Paul T K Chew, Leyla A Aljasim, Tanuj Dada, Tam Thi Luu, Mona S Awadalla, Naris Kitnarong, Boonsong Wanichwecharungruang, Yee Yee Aung, Jelinar Mohamed-Noor, Saravanan Vijayan, Sripriya Sarangapani, Rahat Husain, Aliza Jap, Mani Baskaran, David Goh, Daniel H Su, Huaizhou Wang, Vernon K Yong, Leonard W Yip, Tuyet Bach Trinh, Manchima Makornwattana, Thanh Thu Nguyen, Edgar U Leuenberger, Ki-Ho Park, Widya Artini Wiyogo, Rajesh S Kumar, Celso Tello, Yasuo Kurimoto, Suman S Thapa, Kessara Pathanapitoon, John F Salmon, Yong Ho Sohn, Antonio Fea, Mineo Ozaki, Jimmy S M Lai, Visanee Tantisevi, Chaw Chaw Khaing, Takanori Mizoguchi, Satoko Nakano, Chan-Yun Kim, Guangxian Tang, Sujie Fan, Renyi Wu, Hailin Meng, Thi Thuy Giang Nguyen, Tien Dat Tran, Morio Ueno, Jose Maria Martinez, Norlina Ramli, Yin Mon Aung, Rigo Daniel Reyes, Stephen A Vernon, Seng Kheong Fang, Zhicheng Xie, Xiao Yin Chen, Jia Nee Foo, Kar Seng Sim, Tina T Wong, Desmond T Quek, Rengaraj Venkatesh, Srinivasan Kavitha, Subbiah R Krishnadas, Nagaswamy Soumittra, Balekudaru Shantha, Boon-Ang Lim, Jeanne Ogle, José P C de Vasconcellos, Vital P Costa, Ricardo Y Abe, Bruno B de Souza, Chelvin C Sng, Maria C Aquino, Ewa Kosior-Jarecka, Guillermo Barreto Fong, Vania Castro Tamanaja, Ricardo Fujita, Yuzhen Jiang, Naushin Waseem, Sancy Low, Huan Nguyen Pham, Sami Al-Shahwan, E Randy Craven, Muhammad Imran Khan, Rrima Dada, Kuldeep Mohanty, Muneeb A Faiq, Alex W Hewitt, Kathryn P Burdon, Eng Hui Gan, Anuwat Prutthipongsit, Thipnapa Patthanathamrongkasem, Mary Ann T Catacutan, Irene R Felarca, Chona S Liao, Emma Rusmayani, Vira Wardhana Istiantoro, Giulia Consolandi, Giulia Pignata, Carlo Lavia, Prin Rojanapongpun, Lerprat Mangkornkanokpong, Sunee Chansangpetch, Jonathan C H Chan, Bonnie N K Choy, Jennifer W H Shum, Hlaing May Than, Khin Thida Oo, Aye Thi Han, Victor H Yong, Xiao-Yu Ng, Shuang Ru Goh, Yaan Fun Chong, Martin L Hibberd, Mark Seielstad, Eileen Png, Sarah J Dunstan, Nguyen Van Vinh Chau, Jinxin Bei, Yi Xin Zeng, Abhilasha Karkey, Buddha Basnyat, Francesca Pasutto, Daniela Paoli, Paolo Frezzotti, Jie Jin Wang, Paul Mitchell, John H Fingert, R Rand Allingham, Michael A Hauser, Soon Thye Lim, Soo Hong Chew, Richard P Ebstein, Anavaj Sakuntabhai, Kyu Hyung Park, Jeeyun Ahn, Greet Boland, Harm Snippe, Richard Stead, Raquel Quino, Su Nyunt Zaw, Urszula Lukasik, Rohit Shetty, Mimiwati Zahari, Hyoung Won Bae, Nay Lin Oo, Toshiaki Kubota, Anita Manassakorn, Wing Lau Ho, Laura Dallorto, Young Hoon Hwang, Christine A Kiire, Masako Kuroda, Zeiras Eka Djamal, Jovell Ian M Peregrino, Arkasubhra Ghosh, Jin Wook Jeoung, Tung S Hoan, Nuttamon Srisamran, Thayanithi Sandragasu, Saw Htoo Set, Vi Huyen Doan, Shomi S Bhattacharya, Ching-Lin Ho, Donald T Tan, Ramanjit Sihota, Seng-Chee Loon, Kazuhiko Mori, Shigeru Kinoshita, Anneke I den Hollander, Raheel Qamar, Ya-Xing Wang, Yik Y Teo, E-Shyong Tai, Curt Hartleben-Matkin, David Lozano-Giral, Seang Mei Saw, Ching-Yu Cheng, Juan C Zenteno, Chi Pui Pang, Huong T T Bui, Owen Hee, Jamie E Craig, Deepak P Edward, Michiko Yonahara, Jamil Miguel Neto, Maria L Guevara-Fujita, Liang Xu, Robert Ritch, Ahmad Tajudin Liza-Sharmini, Tien Y Wong, Saleh Al-Obeidan, Nhu Hon Do, Periasamy Sundaresan, Clement C Tham, Paul J Foster, Lingam Vijaya, Kei Tashiro, Eranga N Vithana, Ningli Wang, Tin Aung
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1...
May 2016: Nature Genetics
https://www.readbyqxmd.com/read/27005436/gene-based-aggregate-snp-associations-between-candidate-ad-genes-and-cognitive-decline
#19
REVIEW
Jasmine Nettiksimmons, Gregory Tranah, Daniel S Evans, Jennifer S Yokoyama, Kristine Yaffe
Single nucleotide polymorphisms (SNPs) in and near ABCA7, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, complement receptor 1 (CR1), EPHA1, EXOC3L2, FERMT2, HLA cluster (DRB5-DQA), INPP5D, MEF2C, MS4A cluster (MS4A3-MS4A6E), NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1 have been associated with Alzheimer's disease (AD) in large meta-analyses. We aimed to determine whether established AD-associated genes are associated with longitudinal cognitive decline by examining aggregate variation across these gene regions...
April 2016: Age (2005-)
https://www.readbyqxmd.com/read/26543236/risk-prediction-for-sporadic-alzheimer-s-disease-using-genetic-risk-score-in-the-han-chinese-population
#20
RANDOMIZED CONTROLLED TRIAL
Qianyi Xiao, Zhi-Jun Liu, Sha Tao, Yi-Min Sun, Deke Jiang, Hong-Lei Li, Haitao Chen, Xu Liu, Brittany Lapin, Chi-Hsiung Wang, S Lilly Zheng, Jianfeng Xu, Zhi-Ying Wu
More than 30 independent single-nucleotide polymorphisms (SNPs) have been associated with Alzheimer's disease (AD) risk by genome-wide association studies (GWAS) in European. We aimed to confirm these SNPs in Chinese Han and investigate the utility of these genetic markers. We randomly divided 459 sporadic AD (SAD) patients and 751 cognitively normal controls into two sets (discovery and testing). Thirty-three SAD risk-associated SNPs were firstly tested in the discovery set. Significant SNPs were used to calculate genetic risk score (GRS) in the testing set...
November 10, 2015: Oncotarget
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