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Amd genetic

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
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
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...
October 14, 2016: Experimental Eye Research
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
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
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
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
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
Lei Wang, Marisol Cano, Sayantan Datta, Hong Wei, Katayoon B Ebrahimi, Yara Gorashi, Cecilia Garlanda, James T Handa
The discovery that genetic abnormalities in complement factor H (FH) are associated with increased risk for age-related macular degeneration (AMD), the most common cause of blindness among the elderly, raised hope of new treatments for this vision threatening disease. Nonetheless, over a decade after the identification of this important association, how innate immunity contributes to AMD remains unresolved. Pentraxin 3 (PTX3), an essential component of innate immunity that plays a non-redundant role in controlling inflammation, regulates complement by interacting with complement components...
September 23, 2016: Journal of Pathology
Patricia Berber, Felix Grassmann, Christina Kiel, Bernhard H F Weber
Age-related macular degeneration (AMD) is the primary cause of blindness in developed countries, and is the third leading cause worldwide. Emerging evidence suggests that beside environmental and genetic factors, epigenetic mechanisms, such as microRNA (miRNA) regulation of gene expression, are relevant to AMD providing an exciting new avenue for research and therapy. MiRNAs are short, non-coding RNAs thought to be imperative for coping with cellular stress. Numerous studies have analyzed miRNA dysregulation in AMD patients, although with varying outcomes...
September 23, 2016: Molecular Diagnosis & Therapy
Alvaro Velazquez-Villoria, Sergio Recalde, Jaouad Anter, Jaione Bezunartea, Maria Hernandez-Sanchez, Laura García-García, Elena Alonso, Jose María Ruiz-Moreno, Javier Araiz-Iribarren, Patricia Fernandez-Robredo, Alfredo García-Layana
Choroidal neovascularization (CNV) commonly occurs in age related macular degeneration and pathological myopia patients. In this study we conducted a case-control prospective study including 431 participants. The aim of this study was to determine the potential association between 10 single nucleotide polymorphisms (SNPs) located in 4 different genetic regions (CFI, COL8A1, LIPC, and APOE), and choroidal neovascularization in age-related macular degeneration and the development of choroidal neovascularization in highly myopic eyes of a Caucasian population...
2016: PloS One
A D Dick
Dogma for reasons of immune privilege including sequestration (sic) of ocular antigen, lack of lymphatic and immune competent cells in the vital tissues of the eye has long evaporated. Maintaining tissue and cellular health to preserve vision requires active immune responses to prevent damage and respond to danger. A priori the eye must contain immune competent cells, undergo immune surveillance to ensure homoeostasis as well as an ability to promote inflammation. By interrogating immune responses in non-infectious uveitis and compare with age-related macular degeneration (AMD), new concepts of intraocular immune health emerge...
September 16, 2016: Eye
Rebecca J Sardell, Jessica N Cooke Bailey, Monique D Courtenay, Patrice Whitehead, Reneé A Laux, Larry D Adams, Jorge A Fortun, Milam A Brantley, Jaclyn L Kovach, Stephen G Schwartz, Anita Agarwal, William K Scott, Jonathan L Haines, Margaret A Pericak-Vance
PURPOSE: Demographic, environmental, and genetic risk factors for age-related macular degeneration (AMD) have been identified; however, a substantial portion of the variance in AMD disease risk and heritability remains unexplained. To identify AMD risk variants and generate hypotheses for future studies, we performed whole exome sequencing for 75 individuals whose phenotype was not well predicted by their genotype at known risk loci. We hypothesized that these phenotypically extreme individuals were more likely to carry rare risk or protective variants with large effect sizes...
2016: Molecular Vision
Mayur Choudhary, Jin-Dong Ding, Xiaoping Qi, Michael E Boulton, Pei-Li Yao, Jeffrey M Peters, Goldis Malek
Peroxisome proliferator-activated receptor-β/δ (PPARβ/δ) is a nuclear receptor that regulates differentiation, inflammation, lipid metabolism, extracellular matrix remodeling, and angiogenesis in multiple tissues. These pathways are also central to the pathogenesis of age-related macular degeneration (AMD), the leading cause of vision loss globally. With the goal of identifying signaling pathways that may be important in the development of AMD, we investigated the impact of PPARβ/δ activation on ocular tissues affected in the disease...
September 8, 2016: Aging
Divya Gupta, Vani Gupta, Vinita Singh, Swayam Prakash, Suraksha Agrawal, Shobhit Chawla, Shubha R Phadke
BACKGROUND: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly people. AMD is a multifactorial disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been found to be associated with AMD. AIM: This study was aimed to investigate the association of polymorphisms in VEGF genes with age related macular degeneration (AMD) in Indian patients. METHOD: Genotyping for the VEGF - 1154 (G > A), - 2578 (C > A), + 405 (G > C) and - 460 (C > T) SNPs was performed in 100 AMD patients and 100 controls by polymerase chain reaction (PCR), restriction fragment length polymorphism (PCR-RFLP) and sequencing method...
September 2016: Meta Gene
Hyung Jun Woo, Chenggang Yu, Kamal Kumar, Bert Gold, Jaques Reifman
BACKGROUND: Genome-wide association studies provide important insights to the genetic component of disease risks. However, an existing challenge is how to incorporate collective effects of interactions beyond the level of independent single nucleotide polymorphism (SNP) tests. While methods considering each SNP pair separately have provided insights, a large portion of expected heritability may reside in higher-order interaction effects. RESULTS: We describe an inference approach (discrete discriminant analysis; DDA) designed to probe collective interactions while treating both genotypes and phenotypes as random variables...
2016: BMC Genomics
Erin K Wagner, Soumya Raychaudhuri, Mercedes B Villalonga, Anuja Java, Michael P Triebwasser, Mark J Daly, John P Atkinson, Johanna M Seddon
The genetic architecture of age-related macular degeneration (AMD) involves numerous genetic variants, both common and rare, in the coding region of complement factor H (CFH). While these variants explain high disease burden in some families, they fail to explain the pathology in all. We selected families whose AMD was unexplained by known variants and performed whole exome sequencing to probe for other rare, highly penetrant variants. We identified four rare loss-of-function variants in CFH associated with AMD...
2016: Scientific Reports
Sufian Elfandi, Sotaro Ooto, Naoko Ueda-Arakawa, Ayako Takahashi, Munemitsu Yoshikawa, Hideo Nakanishi, Hiroshi Tamura, Akio Oishi, Kenji Yamashiro, Nagahisa Yoshimura
PURPOSE: To investigate differences in clinical characteristics and genotype distribution in Japanese patients with age-related macular degeneration (AMD) and pseudodrusen using multimodal imaging. DESIGN: Retrospective, observational case series. PARTICIPANTS: A total of 101 patients (101 eyes) with AMD and pseudodrusen. METHODS: Patients underwent complete ophthalmologic examination, including color fundus photography, infrared reflectance (IR) imaging, fundus autofluorescence, confocal blue reflectance, fluorescein and indocyanine green (ICG) angiography, and spectral-domain optical coherence tomography (SD OCT)...
October 2016: Ophthalmology
Lijuan Zhang, Sally Justus, Yu Xu, Tamara Pluchenik, Chun-Wei Hsu, Jin Yang, Jimmy K Duong, Chyuan-Sheng Lin, Yading Jia, Alexander G Bassuk, Vinit B Mahajan, Stephen H Tsang
Retinitis pigmentosa (RP) is an incurable neurodegenerative condition featuring photoreceptor death that leads to blindness. Currently, there is no approved therapeutic for photoreceptor degenerative conditions like RP and atrophic age-related macular degeneration (AMD). Although there are promising results in human gene therapy, RP is a genetically diverse disorder, such that gene-specific therapies would be practical in a small fraction of RP patients. Here, we explore a non-gene-specific strategy that entails reprogramming photoreceptors towards anabolism by upregulating the mechanistic target of rapamycin (mTOR) pathway...
August 11, 2016: Human Molecular Genetics
A Mitchell, B Nokay, H Guberina, U Behlen-Wilm, M Nagel, M Kirschfink, T Wiech, A Kribben, A Bienholz
OBJECTIVE: Malignant hypertension as borne out by uncontrolled hypertension with accelerated target organ damage has a variable and often dire prognosis. Loss of kidney function is a hallmark of the condition and is frequently accompanied by thrombotic microangiopathy (TMA). DESIGN AND METHOD: Here we present the case of a patient with malignant hypertension, who was successfully treated using a combination of in-label and off-label medication according to the following pathophysiological concepts: 1) Innate immunity has been identified as a player in blood pressure (BP) control, 2) the complement inhibitor eculizumab has become available for treating atypical hemolytic uremic syndrome (aHUS), which shares many features of malignant hypertension, 3) endothelin (ET) antagonism, although not currently approved for these indications, has been shown to be effective for treating proteinuria and as a possible adjunct for the treatment of resistant hypertension...
September 2016: Journal of Hypertension
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