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https://www.readbyqxmd.com/read/27918759/the-functional-effect-of-rare-variants-in-complement-genes-on-c3b-degradation-in-patients-with-age-related-macular-degeneration
#1
Maartje J Geerlings, Mariann Kremlitzka, Bjorn Bakker, Sara C Nilsson, Nicole T Saksens, Yara T Lechanteur, Marc Pauper, Jordi Corominas, Sascha Fauser, Carel B Hoyng, Anna M Blom, Eiko K de Jong, Anneke I den Hollander
Importance: In age-related macular degeneration (AMD), rare variants in the complement system have been described, but their functional consequences remain largely unexplored. Objectives: To identify new rare variants in complement genes and determine the functional effect of identified variants on complement levels and complement regulation in serum samples from carriers and noncarriers. Design, Setting, and Participants: This study evaluated affected (n = 114) and unaffected (n = 60) members of 22 families with AMD and a case-control cohort consisting of 1831 unrelated patients with AMD and 1367 control individuals from the European Genetic Database from March 29, 2006, to April 26, 2013, in Nijmegen, the Netherlands, and Cologne, Germany...
December 1, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27903086/the-association-of-smokeless-tobacco-use-and-pack-years-of-smokeless-tobacco-with-age-related-macular-degeneration-in-indian-population
#2
Sangeetha Srinvasan, Gayathri Swaminathan, Vaitheeswaran Kulothungan, Tarun Sharma, Rajiv Raman
PURPOSE: To explore the association of use and the influence of pack-year use of smokeless tobacco versus no use with that of early and late age-related macular degeneration (AMD) in rural and urban south Indian population. We hypothesized that the use and pack-years of use would be significantly associated with both early and late AMD. We therefore sought to examine subjects who gave a history of using smokeless tobacco and we quantified the usage as pack-years, to examine the association with that of early and late AMD...
November 30, 2016: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/27902695/text-mining-genotype-phenotype-relationships-from-biomedical-literature-for-database-curation-and-precision-medicine
#3
Ayush Singhal, Michael Simmons, Zhiyong Lu
The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature...
November 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27902638/the-pathophysiology-of-geographic-atrophy-secondary-to-age-related-macular-degeneration-and-the-complement-pathway-as-a-therapeutic-target
#4
David S Boyer, Ursula Schmidt-Erfurth, Menno van Lookeren Campagne, Erin C Henry, Christopher Brittain
PURPOSE: Geographic atrophy (GA) is an advanced, vision-threatening form of age-related macular degeneration (AMD) affecting approximately five million individuals worldwide. To date, there are no approved therapeutics for GA treatment; however, several are in clinical trials. This review focuses on the pathophysiology of GA, particularly the role of complement cascade dysregulation and emerging therapies targeting the complement cascade. METHODS: Primary literature search on PubMed for GA, complement cascade in age-related macular degeneration...
November 29, 2016: Retina
https://www.readbyqxmd.com/read/27901647/a-decade-of-age-related-macular-degeneration-risk-models-what-have-we-learned-from-them-and-where-are-we-going
#5
Michael Zhang, Paul N Baird
The genomic revolution has revealed the complexity of multifactorial diseases, making the development of effective diagnostics extremely challenging. In turn, the prospect of precision medicine as applied through targeted therapeutic treatments continues to remain largely elusive. Age-related macular degeneration (AMD) as a complex disease falls under this category, despite it being one of the most well characterized multifactorial diseases. This reflects both the extent of identified genetic components and known environmental risk factors...
November 30, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27881906/genetic-and-immunohistochemical-analysis-of-hspa5-in-mouse-and-human-retinas
#6
Sumana R Chintalapudi, XiaoFei Wang, Huiling Li, Yin H Chan Lau, Robert W Williams, Monica M Jablonski
PURPOSE: Photoreceptor degenerative diseases are among the leading causes of vision loss. Although the causative genetic mutations are often known, mechanisms leading to photoreceptor degeneration remain poorly defined. We have previously demonstrated that the photoreceptor membrane-associated protein XAP-1 antigen is a product of the HSPA5 gene. In this study, we used systems genetic methods, statistical modeling, and immunostaining to identify and analyze candidate genes that modulate Hspa5 expression in the retina...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27879347/recombinant-haplotypes-narrow-the-arms2-htra1-association-signal-for-age-related-macular-degeneration
#7
Felix Grassmann, Iris M Heid, Bernhard H F Weber
Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies and is caused by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously to center over two genes, ARMS2 and HTRA1 on 10q26, although with little knowledge as to the true functionally relevant gene or genetic variation. Due to extensive linkage disequilibrium (LD) at this locus, it was long assumed that the broad association signal cannot be dissected by statistical means...
November 22, 2016: Genetics
https://www.readbyqxmd.com/read/27866147/benefits-potential-harms-and-optimal-use-of-nutritional-supplementation-for-preventing-progression-of-age-related-macular-degeneration
#8
REVIEW
Carlos H Rojas-Fernandez, Kevin Tyber
OBJECTIVE: To briefly review age-related macular degeneration (AMD), the main findings from the Age Related Eye Disease Study (AREDS) report number 8 on the use of nutritional supplements for AMD, and to focus on data suggesting that supplement use should be guided using genetic testing of AMD risk genes. DATA SOURCES: A literature search (January 2001 through October 26, 2016) was conducted using MEDLINE and the following MeSH terms: Antioxidants/therapeutic use, Genotype, Macular Degeneration/drug therapy, Macular degeneration/genetics, Dietary Supplements, Proteins/genetics, and Zinc Compounds/therapeutic use Bibliographies of publications identified were also reviewed...
November 19, 2016: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/27832277/progression-rate-from-intermediate-to-advanced-age-related-macular-degeneration-is-correlated-with-the-number-of-risk-alleles-at-the-cfh-locus
#9
Rebecca J Sardell, Patrice J Persad, Samuel S Pan, Patrice Whitehead, Larry D Adams, Reneé A Laux, Jorge A Fortun, Milam A Brantley, Jaclyn L Kovach, Stephen G Schwartz, Anita Agarwal, Jonathan L Haines, William K Scott, Margaret A Pericak-Vance
Purpose: Progression rate of age-related macular degeneration (AMD) varies substantially, yet its association with genetic variation has not been widely examined. Methods: We tested whether progression rate from intermediate AMD to geographic atrophy (GA) or choroidal neovascularization (CNV) was correlated with genotype at seven single nucleotide polymorphisms (SNPs) in the four genes most strongly associated with risk of advanced AMD. Cox proportional hazards survival models examined the association between progression time and SNP genotype while adjusting for age and sex and accounting for variable follow-up time, right censored data, and repeated measures (left and right eyes)...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27825655/mediterranean-diet-score-and-its-association-with-age-related-macular-degeneration-the-european-eye-study
#10
Ruth E Hogg, Jayne V Woodside, Alanna McGrath, Ian S Young, Jesus L Vioque, Usha Chakravarthy, Paulus T de Jong, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Astrid E Fletcher
PURPOSE: To examine associations between adherence to a Mediterranean diet and prevalence of age-related macular degeneration (AMD) in countries ranging from Southern to Northern Europe. DESIGN: Cross-sectional, population-based epidemiologic study. PARTICIPANTS: Of 5060 randomly sampled people aged 65 years or older from 7 study centers across Europe (Norway, Estonia, United Kingdom, France, Italy, Greece, and Spain), full dietary data were available in 4753...
November 5, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27814598/associations-of-alzheimer-s-disease-with-macular-degeneration
#11
Leonardo Biscetti, Elisa Luchetti, Andrea Vergaro, Paola Menduno, Carlo Cagini, Lucilla Parnetti
There is growing evidence of epidemiological, genetic, molecular and clinical links between Alzheimer's disease (AD) and age-related macular degeneration (AMD). Major interest in the relationship between AD and AMD has derived from the evidence that beta-amyloid, the main component of senile plaques, the hallmark of AD, is also an important component of drusen, the hallmark of AMD. This finding has a great potential in the present era of anti-amyloid agents for the treatment of AD. The connection between AD and AMD is also supported by the evidence that the two diseases share other pathophysiological factors, such as oxidative stress and neuroinflammation...
January 1, 2017: Frontiers in Bioscience (Elite Edition)
https://www.readbyqxmd.com/read/27771146/heritability-of-choroidal-thickness-in-the-amish
#12
Rebecca J Sardell, Muneeswar G Nittala, Larry D Adams, Reneé A Laux, Jessica N Cooke Bailey, Denise Fuzzell, Sarada Fuzzell, Lori Reinhart-Mercer, Laura J Caywood, Violet Horst, Tine Mackay, Debbie Dana, SriniVas R Sadda, William K Scott, Dwight Stambolian, Jonathan L Haines, Margaret A Pericak-Vance
PURPOSE: To evaluate the heritability of choroidal thickness and its relationship to age-related macular degeneration (AMD). DESIGN: Cohort study. PARTICIPANTS: Six hundred eighty-nine individuals from Amish families with early or intermediate AMD. METHODS: Ocular coherence tomography was used to quantify choroidal thickness, and fundus photography was used to classify eyes into categories using a modified Clinical Age-Related Maculopathy Staging (CARMS) system...
December 2016: Ophthalmology
https://www.readbyqxmd.com/read/27768796/epidemiology-of-reticular-pseudodrusen-in-age-related-macular-degeneration-the-rotterdam-study
#13
Gabriëlle H S Buitendijk, Ada J Hooghart, Corina Brussee, Paulus T V M de Jong, Albert Hofman, Johannes R Vingerling, Caroline C W Klaver
Purpose: Reticular pseudodrusen (RPD) are considered to be a distinct feature in AMD. Population studies have studied the epidemiology of RPD using standard color fundus photographs (CFP). However, recent studies have shown that RPD are better imaged using near-infrared (NIR) imaging. We studied the epidemiology of RPD in a large population-based study using NIR and CFP. Methods: Participants aged 65+ years from the Rotterdam Study underwent ophthalmologic examination including NIR and CFP...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27763569/the-association-between-lipc-rs493258-polymorphism-and-the-susceptibility-to-age-related-macular-degeneration
#14
Yafeng Wang, Mingxu Wang, Xiaoqing Zhang, Jing Nie, Ming Zhang, Xiaohong Liu, Le Ma
The purpose of this study was to evaluate the association of the hepatic lipase (LIPC) rs493258 polymorphism and susceptibility to age-related macular degeneration (AMD). A systematic search in PubMed, EMBASE, and ISI web of science databases was performed to identify eligible published studies without language restrictions up to April 2016. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) in different stages of AMD were estimated under different genetic models using meta-analytic methods. Seven studies comprising 20,559 cases and 17,200 controls met the inclusion criteria and were included in the meta-analysis...
October 18, 2016: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/27751744/the-alzheimer-s-related-amyloid-beta-peptide-is-internalised-by-r28-neuroretinal-cells-and-disrupts-the-microtubule-associated-protein-2-map-2
#15
George Taylor-Walker, Savannah A Lynn, Eloise Keeling, Rosie Munday, David A Johnston, Anton Page, Jennifer A Scott, Srini Goverdhan, Andrew J Lotery, J Arjuna Ratnayaka
Age-related Macular Degeneration (AMD) is a common, irreversible blinding condition that leads to the loss of central vision. AMD has a complex aetiology with both genetic as well as environmental risks factors, and share many similarities with Alzheimer's disease. Recent findings have contributed significantly to unravelling its genetic architecture that is yet to be matched by molecular insights. Studies are made more challenging by observations that aged and AMD retinas accumulate the highly pathogenic Alzheimer's-related Amyloid beta (Aβ) group of peptides, for which there appears to be no clear genetic basis...
December 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27711217/multi-functional-oct-enables-longitudinal-study-of-retinal-changes-in-a-vldlr-knockout-mouse-model
#16
Marco Augustin, Stanislava Fialová, Tanja Himmel, Martin Glösmann, Theresia Lengheimer, Danielle J Harper, Roberto Plasenzotti, Michael Pircher, Christoph K Hitzenberger, Bernhard Baumann
We present a multi-functional optical coherence tomography (OCT) imaging approach to study retinal changes in the very-low-density-lipoprotein-receptor (VLDLR) knockout mouse model with a threefold contrast. In the retinas of VLDLR knockout mice spontaneous retinal-chorodoidal neovascularizations form, having an appearance similar to choroidal and retinal neovascularizations (CNV and RNV) in neovascular age-related macular degeneration (AMD) or retinal angiomatous proliferation (RAP). For this longitudinal study, the mice were imaged every 4 to 6 weeks starting with an age of 4 weeks and following up to the age of 11 months...
2016: PloS One
https://www.readbyqxmd.com/read/27708407/developing-a-genetic-manipulation-system-for-the-antarctic-archaeon-halorubrum-lacusprofundi-investigating-acetamidase-gene-function
#17
Y Liao, T J Williams, J C Walsh, M Ji, A Poljak, P M G Curmi, I G Duggin, R Cavicchioli
No systems have been reported for genetic manipulation of cold-adapted Archaea. Halorubrum lacusprofundi is an important member of Deep Lake, Antarctica (~10% of the population), and is amendable to laboratory cultivation. Here we report the development of a shuttle-vector and targeted gene-knockout system for this species. To investigate the function of acetamidase/formamidase genes, a class of genes not experimentally studied in Archaea, the acetamidase gene, amd3, was disrupted. The wild-type grew on acetamide as a sole source of carbon and nitrogen, but the mutant did not...
October 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27693409/serum-paraoxonase-activity-in-relation-to-lipid-profile-in-age-related-macular-degeneration-patients
#18
Kannadasan AnandBabu, S R Bharathidevi, Sarangapani Sripriya, Parveen Sen, Vadivelu Jaya Prakash, Appukuttan Bindu, Natarajan Viswanathan, Narayanasamy Angayarkanni
Age-related Macular Degeneration (AMD) is a multifactorial disease causing visual impairment in old age. Oxidative stress is one of the main contributors for the disease progression. Paraoxonase (PON), a HDL-resident antioxidant enzyme which removes oxidized low density lipoprotein (oxLDL), which is not studied much in AMD. This study assesses the PON activities in relation to the lipid status and genetic variants in AMD patients. In this prospective case-control study, a total of 48 AMD patients and 30 unrelated healthy controls were recruited...
September 28, 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27672596/influence-of-cfh-htra1-and-arms2-polymorphisms-in-the-response-to-intravitreal-ranibizumab-treatment-for-wet-age-related-macular-degeneration-in-a-spanish-population
#19
Fernando Cruz-Gonzalez, Lucia Cabrillo-Estevez, Vanesa Rivero-Gutierrez, Ana Sanchez-Jara, Lourdes De Juan-Marcos, Rogelio Gonzalez-Sarmiento
AIM: To determine whether gene polymorphisms of the major genetic risk loci for age-related macular degeneration (AMD): ARMS2 (rs10490923), the complement factor H (CFH) (rs1410996) and HTRA1 (rs11200638) influence the response to a treatment regimen with ranibizumab for exudative AMD. METHODS: This study included 100 patients (100 eyes) with exudative AMD. Patients underwent a treatment with ranibizumab injections monthly during three months. Reinjections were made when the best corrected visual acuity (BCVA) decrease five letters (ETDRS) or central subfield retinal thickness gained 100 µm in optical coherence tomography image...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27668132/novel-mechanistic-interplay-between-products-of-oxidative-stress-and-components-of-the-complement-system-in-amd-pathogenesis
#20
Hongjun Du, Xu Xiao, Travis Stiles, Christopher Douglas, Daisy Ho, Peter X Shaw
Age-related macular degeneration (AMD) is a leading cause of vision loss affecting tens of millions of elderly worldwide. Early AMD includes soft drusen and pigmentary changes in the retinal pigment epithelium (RPE). As people age, such soft confluent drusen can progress into two forms of advanced AMD, geographic atrophy (GA, or dry AMD) or choroidal neovascularization (CNV, or wet AMD) and result in the loss of central vision. The exact mechanism for developing early AMD and progressing to advanced stage of disease is still largely unknown...
February 2016: Open Journal of Ophthalmology
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