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Amd genetic

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https://www.readbyqxmd.com/read/29435619/acetamidase-as-a-dominant-recyclable-marker-for-komagataella-phaffii-strain-engineering
#1
Luiza Cesca Piva, Janice Lisboa De Marco, Lidia Maria Pepe de Moraes, Viviane Castelo Branco Reis, Fernando Araripe Gonçalves Torres
We have investigated the use of the gene coding for acetamidase (amdS) as a recyclable dominant marker for the methylotrophic yeast Komagataella phaffii in order to broaden its genetic toolbox. First, the endogenous constitutive AMD2 gene (a putative acetamidase) was deleted generating strain LA1. A cassette (amdSloxP) was constructed bearing a codon-optimized version of the Aspergillus nidulans amdS gene flanked by loxP sites for marker excision with Cre recombinase. This cassette was successfully tested as a dominant selection marker for transformation of the LA1 strain after selection on plates containing acetamide as a sole nitrogen source...
February 12, 2018: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29424826/how-do-patients-respond-to-genetic-testing-for-age-related-macular-degeneration
#2
Catherine A McCarty, Michael J Fuchs, Allan Lamb, Pat Conway
SIGNIFICANCE: The American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases such as age-related macular degeneration (AMD.) The results of this study demonstrate that patients are very interested in predictive genetic testing for AMD, find the information useful, and make behavioral changes as a result of the information. PURPOSE: The goal of this project was to conduct a pilot AMD genomic medicine study. METHODS: Eligible patients were aged 50 to 65 years with no personal history of AMD...
February 8, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29398083/genome-wide-association-study-reveals-variants-in-cfh-and-cfhr4-associated-with-systemic-complement-activation-implications-in-age-related-macular-degeneration
#3
Laura Lorés-Motta, Constantin C Paun, Jordi Corominas, Marc Pauper, Maartje J Geerlings, Lebriz Altay, Tina Schick, Mohamed R Daha, Sascha Fauser, Carel B Hoyng, Anneke I den Hollander, Eiko K de Jong
PURPOSE: To identify genetic variants associated with complement activation, which may help to select age-related macular degeneration (AMD) patients for complement-inhibiting therapies. DESIGN: Genome-wide association study (GWAS) followed by replication and meta-analysis. PARTICIPANTS: AMD patients and controls (n = 2245). METHODS: A GWAS on serum C3d-to-C3 ratio was performed in 1548 AMD patients and controls. For replication and meta-analysis, 697 additional individuals were genotyped...
February 1, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29392637/association-of-polymorphisms-of-complement-factor-i-rs141853578-g119r-with-age-related-macular-degeneration-in-iranian-population
#4
Mortaza Bonyadi, Neda Norouzi, Esmaeil Babaei, Mohammad Hossein Jabbarpoor Bonyadi, Alireza Javadzadeh, Mehdi Yaseri, Masoud Soheilian
BACKGROUND: Age-related macular degeneration (AMD) is a complex disease, and recent studies have shown role of complement system genes in its development. Complement factor I regulates the complement pathways, and relationship between CFI polymorphisms and AMD is controversial. We evaluated the possible association of complement factor I rs141853578 (G119R) variation with advanced AMD in Iranian patients. MATERIALS AND METHODS: We included 371 case-control samples consisting of 220 advanced AMD patients and 151 genetically unrelated healthy controls...
February 1, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29346644/genome-wide-analysis-of-disease-progression-in-age-related-macular-degeneration
#5
Qi Yan, Ying Ding, Yi Liu, Tao Sun, Lars G Fritsche, Traci Clemons, Rinki Ratnapriya, Michael L Klein, Richard J Cook, Yu Liu, Ruzong Fan, Lai Wei, Gonçalo R Abecasis, Anand Swaroop, Emily Y Chew, Daniel E Weeks, Wei Chen
Family- and population-based genetic studies have successfully identified multiple disease-susceptibility loci for Age-related Macular Degeneration (AMD), one of the first batch and most successful examples of genome-wide association study (GWAS). However, most genetic studies to date have focused on case-control studies of late AMD (choroidal neovascularization [CNV] or geographic atrophy [GA]). The genetic influences on disease progression are largely unexplored. We assembled unique resources to perform a genome-wide bivariate time-to-event analysis to test for association of time-to-late-AMD with ∼9 million variants on 2,721 Caucasians from a large multi-center randomized clinical trial, the Age-Related Eye Disease Study...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29339146/microspheres-as-intraocular-therapeutic-tools-in-chronic-diseases-of-the-optic-nerve-and-retina
#6
Irene Bravo-Osuna, Vanessa Andrés-Guerrero, Alicia Arranz-Romera, Sergio Esteban-Pérez, Irene T Molina-Martínez, Rocío Herrero-Vanrell
Pathologies affecting the optic nerve and the retina are one of the major causes of blindness. These diseases include age-related macular degeneration (AMD), diabetic retinopathy (DR) and glaucoma, among others. Also, there are genetic disorders that affect the retina causing visual impairment. The prevalence of neurodegenerative diseases of the posterior segment is increased as most of them are related with the elderly. Even with the access to different treatments, there are some challenges in managing patients suffering retinal diseases...
January 12, 2018: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/29335418/gender-specific-association-of-early-age-related-macular-degeneration-with-systemic-and-genetic-factors-in-a-japanese-population
#7
Mariko Sasaki, Sei Harada, Yumiko Kawasaki, Miki Watanabe, Hidemi Ito, Hideo Tanaka, Ayano Takeuchi, Kazuo Tsubota, Toru Takebayashi, Yuji Nishiwaki, Ryo Kawasaki
The Tsuruoka Metabolomics Cohort Study included subjects aged 35-74 years from participants in annual health check-up programs in Tsuruoka, Japan. The gender-specific associations of early age-related macular degeneration (AMD) with systemic and genetic factors was assessed cross-sectionally. Of these, 3,988 subjects had fundus photographs of sufficient quality, and early AMD was present in 12.3% and 10.3% of men and women, respectively. In men, higher levels of high-density lipoprotein cholesterol and lower levels of triglycerides were associated with increased odds of having early AMD after adjusting for potential risk factors (for each 1 mmol/L increase, odds ratio [OR]: 1...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29323771/association-of-igfn1-variant-with-polypoidal-choroidal-vasculopathy
#8
Xiaofeng Wen, Yu Liu, Qi Yan, Minling Liang, Miao Tang, Ran Liu, Jianying Pan, Qiuhui Liu, Tingting Chen, Shixin Guo, Juanran Liang, Lin Lu, Xiaoyan Ding, Wei Chen, Lai Wei
BACKGROUND: Polypoidal choroidal vasculopathy (PCV) and neovascular age-related macular degeneration (nAMD) share similar phenotype but are different in clinical manifestations, responses to treatment, and prognosis. Whether PCV is a subtype of AMD or a distinct entity from nAMD remains elusive. Therefore, we performed a whole-exome sequencing (WES) based association analysis to compare the genetic architecture of PCV and nAMD in Han Chinese. METHODS: Whole-exome sequencing analysis was performed on 21 nAMD cases, 20 PCV cases and 20 healthy controls...
January 11, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29311295/cfh-and-arms2-genetic-risk-determines-progression-to-neovascular-age-related-macular-degeneration-after-antioxidant-and-zinc-supplementation
#9
Demetrios G Vavvas, Kent W Small, Carl C Awh, Brent W Zanke, Robert J Tibshirani, Rafal Kustra
We evaluated the influence of an antioxidant and zinc nutritional supplement [the Age-Related Eye Disease Study (AREDS) formulation] on delaying or preventing progression to neovascular AMD (NV) in persons with age-related macular degeneration (AMD). AREDS subjects (n = 802) with category 3 or 4 AMD at baseline who had been treated with placebo or the AREDS formulation were evaluated for differences in the risk of progression to NV as a function of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotype groups...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29305324/real-world-outcomes-in-patients-with-neovascular-age-related-macular-degeneration-treated-with-intravitreal-vascular-endothelial-growth-factor-inhibitors
#10
REVIEW
Hemal Mehta, Adnan Tufail, Vincent Daien, Aaron Lee, Vuong Nguyen, Mehmet Ozturk, Daniel Barthelmes, Mark C Gillies
Clinical trials identified intravitreal vascular endothelial growth factor inhibitors (anti-VEGF agents) have the potential to stabilise or even improve visual acuity outcomes in neovascular age-related macular degeneration (AMD), a sight-threatening disease. Real-world evidence allows us to assess whether results from randomised controlled trials can be applied to the general population. We describe the development of global registries, in particular the Fight Retinal Blindness! registry that originated in Australia, the United Kingdom AMD Electronic Medical Records User Group and the IRIS registry in the USA...
January 2, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29302837/up-regulated-pro-inflammatory-micrornas-mirnas-in-alzheimer-s-disease-ad-and-age-related-macular-degeneration-amd
#11
Aileen I Pogue, Walter J Lukiw
Alzheimer's disease (AD) of the brain neocortex and age-related macular degeneration (AMD) of the retina are two complex neurodegenerative disorders, which (i) involve the progressive dysregulation and deterioration of multiple neurobiological signaling pathways, (ii) exhibit the temporal accumulation of pro-inflammatory lesions including the amyloid beta (Aβ) peptide-containing senile plaques of AD and the drusen of AMD, and (iii) culminate in an insidious inflammatory neurodegeneration ending, respectively, in neural cell atrophy and death and progressive loss of cognition and central visual function...
January 4, 2018: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/29301530/understanding-amd-by-analogy-systematic-review-of-lipid-related-common-pathogenic-mechanisms-in-amd-ad-as-and-gn
#12
REVIEW
Qinyuan Xu, Sijia Cao, Sanjeeva Rajapakse, Joanne A Matsubara
RATIONALE: Age-related macular degeneration (AMD) is one of the leading causes of blindness among the elderly. Due to its complex etiology, current treatments have been insufficient. Previous studies reveal three systems closely involved in AMD pathogenesis: lipid metabolism, oxidation and inflammation. These systems are also involved in Alzheimer's disease, atherosclerosis and glomerulonephritis. Understanding commonalities of these four diseases may provide insight into AMD etiology...
January 4, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29299721/mutations-in-mertk-are-not-associated-with-age-related-macular-degeneration
#13
Hasenin Al-Khersan, Alan Kwong, Michael A Grassi
PURPOSE: To assess whether mutations in Mer tyrosine kinase (MERTK) are associated with age-related macular degeneration (AMD). METHODS: An association study using whole-genome sequencing was performed to determine whether rare variants in MERTK are associated with AMD. The data set included 4787 propensity score-matched case-control samples: 2394 AMD cases and 2393 controls. Whole-genome sequencing was performed and variants in MERTK were identified. Combined annotation-dependent depletion (CADD) scores and allele frequencies were calculated for each variant identified in MERTK...
January 3, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29259020/genetic-risk-factors-for-late-age-related-macular-degeneration-in-india
#14
Anand Rajendran, Pankaja Dhoble, Periasamy Sundaresan, Vijayan Saravanan, Praveen Vashist, Dorothea Nitsch, Liam Smeeth, Usha Chakravarthy, Ravilla D Ravindran, Astrid E Fletcher
BACKGROUND/AIMS: There are limited data from India on genetic variants influencing late age-related macular degeneration (AMD). We have previously reported associations from a population-based study in India (the India age-related eye disease study (INDEYE)) of early AMD and single nucleotide polymorphisms (SNPs) in ARMS2/HTRA1 and no association with CFH, C2 or CFB. Late AMD cases were too few for meaningful analyses. We aimed to investigate SNPs for late AMD through case enrichment and extend the loci for early AMD...
December 19, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29225722/cellular-senescence-in-age-related-macular-degeneration-can-autophagy-and-dna-damage-response-play-a-role
#15
REVIEW
Janusz Blasiak, Malgorzata Piechota, Elzbieta Pawlowska, Magdalena Szatkowska, Ewa Sikora, Kai Kaarniranta
Age-related macular degeneration (AMD) is the main reason of blindness in developed countries. Aging is the main AMD risk factor. Oxidative stress, inflammation and some genetic factors play a role in AMD pathogenesis. AMD is associated with the degradation of retinal pigment epithelium (RPE) cells, photoreceptors, and choriocapillaris. Lost RPE cells in the central retina can be replaced by their peripheral counterparts. However, if they are senescent, degenerated regions in the macula cannot be regenerated...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29212537/association-of-arms2-genotype-with-response-to-anti-vascular-endothelial-growth-factor-treatment-in-polypoidal-choroidal-vasculopathy
#16
Un Chul Park, Joo Young Shin, Hum Chung, Hyeong Gon Yu
BACKGROUND: To investigate whether genetic risk variants for age-related macular degeneration (AMD) are associated with response to intravitreal anti-vascular endothelial growth factor (VEGF) in polypoidal choroidal vasculopathy (PCV) patients. METHODS: This prospective cohort study included 95 treatment-naïve patients that underwent anti-VEGF treatment for PCV for 12 months. Patients were genotyped for 10 single nucleotide polymorphisms in eight AMD-relevant genes...
December 7, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29204995/prevention-of-age-related-macular-degeneration
#17
Niharika Singh, Sangeetha Srinivasan, Vinata Muralidharan, Rupak Roy, Jayprakash V, Rajiv Raman
Age-related macular degeneration (AMD) compromises quality of life. However, the available therapeutic options are limited. This has led to the identification of modifiable risk factors to prevent the development or alter the natural course and prognosis of AMD. The identification and modification of risk factors has the potential for greater public health impact on reducing morbidity from AMD. Likewise, identifying the imaging clues and genetic clues could serve as a guide to recognizing the propensity for progression to severe and end stages of the disease...
November 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29197628/towards-the-application-of-precision-medicine-in-age-related-macular-degeneration
#18
REVIEW
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano Giardina
The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations...
November 29, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29154843/clinical-isolates-of-escherichia-coli-solely-resistant-to-mecillinam-prevalence-and-epidemiology
#19
Aurore Bousquet, Sarah Bugier, Sébastien Larréché, Christine Bigaillon, Philippe Weber, Hervé Delacour, Eric Valade, Dominique De Briel, Audrey Mérens
OBJECTIVES: We observed a particular resistance phenotype: an E. coli isolate from urine sample exhibited resistance to mecillinam (Amd) but was fully susceptible to other β-lactam antibiotics (Amd-R-BL-S). Our objectives were to determine the prevalence of this phenotype and to describe their phenotype, molecular epidemiology and genetic background. METHODS: Between the 1st Jan 2014 and the 31st Jan 2016, Amd-R-BL-S E. coli isolates from urine were collected. We analysed genes previously reported as mostly involved in Amd resistance...
November 14, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/29152206/global-population-structure-and-adaptive-evolution-of-aflatoxin-producing-fungi
#20
Geromy G Moore, Rodrigo A Olarte, Bruce W Horn, Jacalyn L Elliott, Rakhi Singh, Carolyn J O'Neal, Ignazio Carbone
Aflatoxins produced by several species in Aspergillus section Flavi are a significant problem in agriculture and a continuous threat to human health. To provide insights into the biology and global population structure of species in section Flavi, a total of 1,304 isolates were sampled across six species (A. flavus, A. parasiticus, A. nomius, A. caelatus, A. tamarii, and A. alliaceus) from single fields in major peanut-growing regions in Georgia (USA), Australia, Argentina, India, and Benin (Africa). We inferred maximum-likelihood phylogenies for six loci, both combined and separately, including two aflatoxin cluster regions (aflM/alfN and aflW/aflX) and four noncluster regions (amdS, trpC, mfs and MAT), to examine population structure and history...
November 2017: Ecology and Evolution
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