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https://www.readbyqxmd.com/read/28703135/genome-wide-association-study-of-neovascular-age-related-macular-degeneration-in-the-thai-population
#1
Paisan Ruamviboonsuk, Mongkol Tadarati, Panisa Singhanetr, Sukanya Wattanapokayakit, Punna Kunhapan, Thanyapat Wanitchanon, Nuanjun Wichukchinda, Taisei Mushiroda, Masato Akiyama, Yukihide Momozawa, Michiaki Kubo, Surakameth Mahasirimongkol
We performed a genome-wide association study on 377 cases of neovascular age-related macular degeneration (AMD) and 1074 controls to determine the association of previously reported genetic variants associated with neovascular AMD in the Thai population. All patients were of Thai ancestry. We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10(-17)), HTRA1 rs11200638 (P=5.47 × 10(-17)) and complement factor H gene (CFH) rs800292 (P=2.53 × 10(-8)) with neovascular AMD, all loci passing the genome-wide significance level (P<5...
July 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28698208/plasma-lipoprotein-sub-fraction-concentrations-are-associated-with-lipid-metabolism-and-age-related-macular-degeneration
#2
Chui Ming Gemmy Cheung, Alfred Gan, Qiao Fan, Miao Ling Chee, Rajendra S Apte, Chiea Chuen Khor, Ian Yeo, Ranjana Mathur, Ching-Yu Cheng, Tien Yin Wong, E Shyong Tai
Disturbance in lipid metabolism has been suggested as a major pathogenic factor for age-related macular degeneration (AMD). Conventional lipid measures have been inconsistently associated with AMD. Other factors which can alter lipid metabolism include lipoprotein phenotype and genetic mutations. We performed a case-control study to examine the association between lipoprotein profile and neovascular AMD (nAMD), and whether the cholesterylester transfer protein CETP D442G mutation modulates these associations...
July 11, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28637922/targeting-factor-d-of-the-alternative-complement-pathway-reduces-geographic-atrophy-progression-secondary-to-age-related-macular-degeneration
#3
Brian L Yaspan, David F Williams, Frank G Holz, Carl D Regillo, Zhengrong Li, Amy Dressen, Menno van Lookeren Campagne, Kha N Le, Robert R Graham, Tatiana Beres, Tushar R Bhangale, Lee A Honigberg, Ashley Smith, Erin C Henry, Carole Ho, Erich C Strauss
Geographic atrophy is an advanced form of age-related macular degeneration (AMD) and a leading cause of vision loss for which there are no approved treatments. Genetic studies in AMD patients have implicated dysregulation of the alternative complement pathway in the pathogenesis of geographic atrophy. Lampalizumab is a potential therapeutic that targets complement factor D, a pivotal activator of the alternative complement pathway. The MAHALO phase 2 clinical trial was a multicenter, randomized, controlled study that evaluated lampalizumab administered by intravitreal injection monthly (n = 42) and every other month (n = 41) versus sham control (n = 40) in patients with geographic atrophy secondary to AMD...
June 21, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28637435/association-between-polymorphism-rs11200638-in-the-htra1-gene-and-the-response-to-anti-vegf-treatment-of-exudative-amd-a-meta-analysis
#4
Ya-Li Zhou, Chun-Li Chen, Yi-Xiao Wang, Yao Tong, Xiao-Ling Fang, Lin Li, Zhao-Yang Wang
BACKGROUND: Anti-angiogenesis treatments are the most commonly used treatments for the vision loss caused by exudative age-related macular degeneration (AMD), in which the anti-vascular endothelial growth factor (VEGF) drugs with ranibizumab and bevacizumab are current standard treatments. However, the outcome of anti-VEGF therapeutics is not uniform in all patients. METHODS: We performed a literature-based meta-analysis including, five published studies relevant to HTRA1 and response to anti-VEGF treatment (bevacizumab or ranibizumab)...
June 21, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28621538/discovery-of-highly-potent-and-selective-small-molecule-reversible-factor-d-inhibitors-demonstrating-alternative-complement-pathway-inhibition-in-vivo
#5
Edwige Lorthiois, Karen Anderson, Anna Vulpetti, Olivier Rogel, Frederic Cumin, Nils Ostermann, Stefan Steinbacher, Aengus Mac Sweeney, Omar Delgado, Sha-Mei Liao, Stefan Randl, Simon Rüdisser, Solene Dussauge, Kamal Fettis, Laurence Kieffer, Andrea de Erkenez, Louis Yang, Constanze Hartwieg, Upendra A Argikar, Laura R La Bonte, Ronald Newton, Viral Kansara, Stefanie Flohr, Ulrich Hommel, Bruce Jaffee, Jürgen Maibaum
The highly specific S1 serine protease factor D (FD) plays a central role in the amplification of the complement alternative pathway (AP) of the innate immune system. Genetic associations in humans have implicated AP activation in age-related macular degeneration (AMD), and AP dysfunction predisposes individuals to disorders such as paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). The combination of structure-based hit identification and subsequent optimization of the center (S)-proline-based lead 7 has led to the discovery of noncovalent reversible and selective human factor D (FD) inhibitors with drug-like properties...
June 30, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28605809/retinal-macrophages-synthesize-c3-and-activate-complement-in-amd-and-in-models-of-focal-retinal-degeneration
#6
Riccardo Natoli, Nilisha Fernando, Haihan Jiao, Tanja Racic, Michele Madigan, Nigel L Barnett, Joshua A Chu-Tan, Krisztina Valter, Jan Provis, Matt Rutar
Purpose: Complement system dysregulation is strongly linked to the progression of age-related macular degeneration (AMD). Deposition of complement including C3 within the lesions in atrophic AMD is thought to contribute to lesion growth, although the contribution of local cellular sources remains unclear. We investigated the role of retinal microglia and macrophages in complement activation within atrophic lesions, in AMD and in models of focal retinal degeneration. Methods: Human AMD donor retinas were labeled for C3 expression via in situ hybridization...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28602950/on-phagocytes-and-macular-degeneration
#7
REVIEW
Xavier Guillonneau, Chiara M Eandi, Michel Paques, José-Alain Sahel, Przemyslaw Sapieha, Florian Sennlaub
Age related macular degeneration (AMD) is a complex multifactorial disease caused by the interplay of age and genetic and environmental risk factors. A common feature observed in early and both forms of late AMD is the breakdown of the physiologically immunosuppressive subretinal environment and the protracted accumulation of mononuclear phagocytes (MP). We here discuss the origin and nature of subretinal MPs, the mechanisms that lead to their accumulation, the inflammatory mediators they produce as well as the consequences of their chronic presence on photoreceptors, retinal pigment epithelium and choroid...
June 7, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28583181/bringing-the-age-related-macular-degeneration-high-risk-allele-age-related-maculopathy-susceptibility-2-into-focus-with-stem-cell-technology
#8
REVIEW
Shuo Sun, ZhiQing Li, Patrick Glencer, BinCui Cai, XiaoMin Zhang, Jin Yang, XiaoRong Li
Age-related macular degeneration (AMD) is a major cause of blindness in older adults in developed countries. It is a multifactorial disease triggered by both environmental and genetic factors. High-temperature requirement A serine peptidase 1 (HTRA1) and age-related maculopathy susceptibility 2 (ARMS2) are two genes that are strongly associated with AMD. Because ARMS2 is an evolutionarily recent primate-specific gene and because the ARMS2/HTRA1 genes are positioned at a locus on chromosome 10q26 in a region with strong linkage disequilibrium, it is difficult to distinguish the functions of the individual genes...
June 6, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28558370/genetic-polymorphisms-and-the-phenotypic-characterization-of-individuals-with-early-age-related-macular-degeneration
#9
Michael Oeverhaus, Verena Meyer Zu Westrup, Martha Dietzel, Hans-Werner Hense, Daniel Pauleikhoff
PURPOSE: While the importance of risk polymorphisms for the pathogenesis of age-related macular degeneration (AMD) is well established, their impact on morphological and functional phenotypes is largely unclear. We aimed to characterize individual phenotypes in patients who were either homozygous for a risk allele in the CFH gene, ARMS2 gene, or both as compared to non-carriers. METHODS: Patients with early AMD (n = 85) were assessed during a follow-up examination of a prospective study (MARS) with multimodal diagnostics including SD-OCT and microperimetry...
May 31, 2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28557901/improving-the-age-related-macular-degeneration-construct-a-new-classification-system
#10
Richard F Spaide
Previous models of disease in age-related macular degeneration (AMD) were incomplete in that they did not encompass subretinal drusenoid deposits (pseudodrusen), subtypes of neovascularization, and polypoidal choroidal vasculopathy. In addition, Type 3 neovascularization starts in the retina and may not necessarily involve the choroid. As such, the term choroidal neovascularization is not appropriate for these eyes. The new aspects in the AMD construct are to include specific lipoprotein extracellular accumulations, namely drusen and subretinal drusenoid deposits, as early AMD...
May 26, 2017: Retina
https://www.readbyqxmd.com/read/28553324/the-complexities-underlying-age-related-macular-degeneration-could-amyloid-beta-play-an-important-role
#11
REVIEW
Savannah A Lynn, Eloise Keeling, Rosie Munday, Gagandeep Gabha, Helen Griffiths, Andrew J Lotery, J Arjuna Ratnayaka
Age-related macular degeneration (AMD) causes irreversible loss of central vision for which there is no effective treatment. Incipient pathology is thought to occur in the retina for many years before AMD manifests from midlife onwards to affect a large proportion of the elderly. Although genetic as well as non-genetic/environmental risks are recognized, its complex aetiology makes it difficult to identify susceptibility, or indeed what type of AMD develops or how quickly it progresses in different individuals...
April 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28522341/systemic-and-ocular-fluid-compounds-as-potential-biomarkers-in-age-related-macular-degeneration
#12
REVIEW
Eveline Kersten, Constantin C Paun, Rosa L Schellevis, Carel B Hoyng, Cécile Delcourt, Imre Lengyel, Tunde Peto, Marius Ueffing, Caroline C W Klaver, Sascha Dammeier, Anneke I den Hollander, Eiko K de Jong
Biomarkers can help unravel mechanisms of disease and identify new targets for therapy. They can also be useful in clinical practice for monitoring disease progression, evaluation of treatment efficacy and risk assessment in multifactorial diseases, such as age-related macular degeneration (AMD). AMD is a highly prevalent progressive retinal disorder for which multiple genetic and environmental risk factors have been described, but the exact etiology is not yet fully understood. Many compounds have been evaluated for their association with AMD...
May 15, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28482029/from-compliment-to-insult-genetics-of-the-complement-system-in-physiology-and-disease-in-the-human-retina
#13
Robert F Mullins, Alasdair N Warwick, Elliott H Sohn, Andrew J Lotery
Age-related macular degeneration (AMD) is a major cause of visual impairment that affects the central retina. Genome wide association studies and candidate gene screens have identified members of the complement pathway as contributing to the risk of AMD. In this review, we discuss the complement system, its importance in retinal development and normal physiology, how its dysregulation may contribute to disease, and how it might be targeted to prevent damage to the aging choriocapillaris in AMD.
May 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28456421/mendelian-randomization-implicates-high-density-lipoprotein-cholesterol-associated-mechanisms-in-etiology-of-age-related-macular-degeneration
#14
Stephen Burgess, George Davey Smith
PURPOSE: Undertake a systematic investigation into associations between genetic predictors of lipid fractions and age-related macular degeneration (AMD) risk. DESIGN: Two-sample Mendelian randomization investigation using published data. PARTICIPANTS: A total of 33 526 individuals (16 144 cases, 17 832 controls) predominantly of European ancestry from the International Age-related Macular Degeneration Genomics Consortium. METHODS: We consider 185 variants previously demonstrated to be associated with at least 1 of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, or triglycerides at a genome-wide level of significance, and test their associations with AMD...
April 26, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28446513/frequent-hypomorphic-alleles-account-for-a-significant-fraction-of-abca4-disease-and-distinguish-it-from-age-related-macular-degeneration
#15
Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of ABCA4 identifies biallelic mutations in only 60%-70% of cases; 20%-25% remain with one mutation and no mutations are found in 10%-15% of cases with clinically confirmed ABCA4 disease...
April 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28440247/circulating-biomarkers-in-glaucoma-age-related-macular-degeneration-and-diabetic-retinopathy
#16
Madhu Nath, Nabanita Halder, Thirumurthy Velpandian
Biomarkers to predict the altering physiological conditions over the period leading toward the ocular disorders are of major importance in therapeutics. Isolation and validation of the biomarkers specific to ocular diseases are a challenging task. Glaucoma is a neurodegenerative disease of the eye where the correlation of biomarkers in circulating fluid may be made specific for the eye. However, conditions such as wet age-related macular degeneration (AMD) and proliferative diabetic retinopathy (DR), circulating biomarkers might be having some degree of overlap with other conditions like cancer where a common factor such as angiogenesis is involved...
March 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28402189/going-non-viral-the-sleeping-beauty-transposon-system-breaks-on-through-to-the-clinical-side
#17
Michael Hudecek, Zsuzsanna Izsvák, Sandra Johnen, Matthias Renner, Gabriele Thumann, Zoltán Ivics
Molecular medicine has entered a high-tech age that provides curative treatments of complex genetic diseases through genetically engineered cellular medicinal products. Their clinical implementation requires the ability to stably integrate genetic information through gene transfer vectors in a safe, effective and economically viable manner. The latest generation of Sleeping Beauty (SB) transposon vectors fulfills these requirements, and may overcome limitations associated with viral gene transfer vectors and transient non-viral gene delivery approaches that are prevalent in ongoing pre-clinical and translational research...
April 12, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28399268/vitreomacular-adhesion-and-its-association-with-age-related-macular-degeneration-in-a-population-based-setting-the-alienor-study
#18
MULTICENTER STUDY
Sarra Gattoussi, Audrey Cougnard-Grégoire, Marie-Noëlle Delyfer, Marie-Bénédicte Rougier, Cédric Schweitzer, Cécile Delcourt, Jean-François Korobelnik
Purpose: The purpose of this study was to describe vitreomacular adhesion (VMA), diagnosed with spectral-domain optical coherence tomography (SD-OCT), its risk factors, and its association with AMD in a population-based study of French elderly subjects. Methods: Six hundred twenty-two of 624 (99.7%) participants of the Alienor study (Bordeaux, France), ≥75 years of age, had gradable SD-OCT scans of the macula in at least one eye. VMA was defined as visible perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28397307/genetic-variants-in-micrornas-and-their-binding-sites-within-gene-3-utrs-associate-with-susceptibility-to-age-related-macular-degeneration
#19
Mohsen Ghanbari, Stefan J Erkeland, Lei Xu, Johanna M Colijn, Oscar H Franco, Abbas Dehghan, Caroline C W Klaver, Magda A Meester-Smoor
Age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is a complex disease that results from multiple genetic and environmental factors. MicroRNAs (miRNAs) are small noncoding RNAs that post-transcriptionally regulate target mRNAs and are frequently implicated in human diseases. Here, we investigated the association of genetic variants in miRNAs and miRNA-binding sites within gene 3'-untranslated regions (3'UTRs) with AMD using data from the largest AMD genome-wide association study...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28377496/ferrochelatase-is-a-therapeutic-target-for-ocular-neovascularization
#20
Halesha D Basavarajappa, Rania S Sulaiman, Xiaoping Qi, Trupti Shetty, Sardar Sheik Pran Babu, Kamakshi L Sishtla, Bit Lee, Judith Quigley, Sameerah Alkhairy, Christian M Briggs, Kamna Gupta, Buyun Tang, Mehdi Shadmand, Maria B Grant, Michael E Boulton, Seung-Yong Seo, Timothy W Corson
Ocular neovascularization underlies major blinding eye diseases such as "wet" age-related macular degeneration (AMD). Despite the successes of treatments targeting the vascular endothelial growth factor (VEGF) pathway, resistant and refractory patient populations necessitate discovery of new therapeutic targets. Using a forward chemical genetic approach, we identified the heme synthesis enzyme ferrochelatase (FECH) as necessary for angiogenesis in vitro and in vivo FECH is overexpressed in wet AMD eyes and murine choroidal neovascularization; siRNA knockdown of Fech or partial loss of enzymatic function in the Fech(m1Pas) mouse model reduces choroidal neovascularization...
June 2017: EMBO Molecular Medicine
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