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https://www.readbyqxmd.com/read/29650998/a-mega-analysis-of-expression-quantitative-trait-loci-eqtl-provides-insight-into-the-regulatory-architecture-of-gene-expression-variation-in-liver
#1
Tobias Strunz, Felix Grassmann, Javier Gayán, Satu Nahkuri, Debora Souza-Costa, Cyrille Maugeais, Sascha Fauser, Everson Nogoceke, Bernhard H F Weber
Genome-wide association studies (GWAS) have identified numerous genetic variants in the human genome associated with diseases and traits. Nevertheless, for most loci the causative variant is still unknown. Expression quantitative trait loci (eQTL) in disease relevant tissues is an excellent approach to correlate genetic association with gene expression. While liver is the primary site of gene transcription for two pathways relevant to age-related macular degeneration (AMD), namely the complement system and cholesterol metabolism, we explored the contribution of AMD associated variants to modulate liver gene expression...
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29624851/diversity-of-listeria-monocytogenes-strains-isolated-from-agaricus-bisporus-mushroom-production
#2
V Pennone, A Lehardy, A Coffey, O Mcauliffe, K Jordan
AIMS: The aims of this study were to characterise the genetic diversity of Listeria monocytogenes isolates obtained from commercial mushroom production, to establish the persistence, re-contamination and the risk of cross-contamination from the working environment to the final products, creating awareness about the presence of L. monocytogenes thus helping to prevent the possibility of cross-contamination. METHODS AND RESULTS: From an extensive analysis of commercial mushroom production, analysed with BS EN ISO 11290-1:1996/Amd 1:2004 and BS EN ISO 11290-2:1998/Amd 1:2004, 279 L...
April 6, 2018: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/29580721/quantitative-analysis-of-hydroxyapatite-binding-plasma-proteins-in-genotyped-individuals-with-late-stage-age-related-macular-degeneration
#3
Swati Arya, Eszter Emri, Silvia A Synowsky, Sally L Shirran, Neda Barzegar-Befroei, Tunde Peto, Catherine H Botting, Imre Lengyel, Alan J Stewart
Age-related macular degeneration (AMD) is associated with the formation of sub-retinal pigment epithelial (RPE) deposits that block circulatory exchange with the retina. The factors that contribute to deposit formation are not well understood. Recently, we identified the presence of spherular hydroxyapatite (HAP) structures within sub-RPE deposits to which several AMD-associated proteins were bound. This suggested that protein binding to HAP represents a potential mechanism for the retention of proteins in the sub-RPE space...
March 23, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29576927/encapsulated-cell-technology-based-delivery-of-a-complement-inhibitor-reduces-choroidal-neovascularization-in-a-mouse-model
#4
Balasubramaniam Annamalai, Nathaniel Parsons, Marwa Belhaj, Carlene Brandon, Jay Potts, Bärbel Rohrer
Purpose: Age-related macular degeneration (AMD) is a slowly progressing disease, and risk appears to be tied to an overactive complement system. We have previously demonstrated that mouse choroidal neovascularization (CNV) and smoke-induced ocular pathology can be reduced with an alternative pathway (AP) inhibitor fusion protein consisting of a complement receptor-2 fragment linked to the inhibitory domain of factor H (CR2-fH) when delivered systemically. Here we developed an experimental approach with genetically engineered encapsulated ARPE-19 cells to produce CR2-fH intravitreally...
March 2018: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/29565837/polymorphisms-in-selected-genes-and-their-association-with-age-related-macular-degeneration-in-a-chinese-population
#5
Qing Huang, Yi Xiang
BACKGROUND Increasing evidence shows that polymorphisms in a number of genes can influence age-related macular degeneration (AMD) risk. This study aimed to investigate the association of CX3CR1 839C/T, CX3CR1 745G/A, PLEKHA1 958A/G, VEGFA +674C/T, and VEGFA +936C/T polymorphisms with AMD risk among Chinese. MATERIAL AND METHODS The polymorphisms were genotyped on 827 AMD patients and 827 controls, and the odds ratios (ORs) were calculated under allele, additive, recessive, and dominant genetic models. Logistic regression analysis was performed to control for potential confounders (age, sex, and smoking status)...
March 22, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29544768/epigenetic-control-of-gene-regulation-during-development-and-disease-a-view-from-the-retina
#6
REVIEW
Ximena Corso-Díaz, Catherine Jaeger, Vijender Chaitankar, Anand Swaroop
Complex biological processes, such as organogenesis and homeostasis, are stringently regulated by genetic programs that are fine-tuned by epigenetic factors to establish cell fates and/or to respond to the microenvironment. Gene regulatory networks that guide cell differentiation and function are modulated and stabilized by modifications to DNA, RNA and proteins. In this review, we focus on two key epigenetic changes - DNA methylation and histone modifications - and discuss their contribution to retinal development, aging and disease, especially in the context of age-related macular degeneration (AMD) and diabetic retinopathy...
March 12, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29529059/investigating-the-modulation-of-genetic-effects-on-late-amd-by-age-and-sex-lessons-learned-and-two-additional-loci
#7
Thomas W Winkler, Caroline Brandl, Felix Grassmann, Mathias Gorski, Klaus Stark, Julika Loss, Bernhard H F Weber, Iris M Heid
Late-stage age-related macular degeneration (AMD) is the leading cause of visual impairment in the elderly with a complex etiology. The most important non-modifiable risk factors for onset and progression of late AMD are age and genetic risk factors, however, little is known about the interplay between genetics and age or sex. Here, we conducted a large-scale age- and sex-stratified genome-wide association study (GWAS) using 1000 Genomes imputed genome-wide and ExomeChip data (>12 million variants). The data were established by the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) from 16,144 late AMD cases and 17,832 controls...
2018: PloS One
https://www.readbyqxmd.com/read/29487693/uncovering-genetic-and-non-genetic-biomarkers-specific-for-exudative-age-related-macular-degeneration-significant-association-of-twelve-variants
#8
Raffaella Cascella, Claudia Strafella, Giuliana Longo, Michele Ragazzo, Laura Manzo, Cecilia De Felici, Valeria Errichiello, Valerio Caputo, Francesco Viola, Chiara Maria Eandi, Giovanni Staurenghi, Andrea Cusumano, Silvestro Mauriello, Luigi Tonino Marsella, Cinzia Ciccacci, Paola Borgiani, Federica Sangiuolo, Giuseppe Novelli, Federico Ricci, Emiliano Giardina
Age-related Macular Degeneration (AMD) represents one of the most sight-threatening diseases in developed countries that substantially impacts the patients' lifestyle by compromising everyday activities, such as reading and driving. In this context, understanding the prevalence, burden, and population-specific risk/protective factors of AMD is essential for adequate health care planning and provision. Our work aimed to characterize exudative AMD in Italian population and to identify the susceptibility/protective factors (genetic variants, age, sex, smoking and dietary habits) which are specific for the onset of disease...
January 30, 2018: Oncotarget
https://www.readbyqxmd.com/read/29483257/human-aging-and-disease-lessons-from-age-related-macular-degeneration
#9
Jennings Luu, Krzysztof Palczewski
Aging is the most significant risk factor associated with chronic disease in humans. The accumulation of genetic damage throughout life leads to a variety of biological aberrations, including disrupted protein homeostasis, metabolic dysfunction, and altered cellular signaling. Such changes ultimately result in cellular senescence, death, or transformation to uncontrolled proliferation, thereby compromising human health. Events contributing to age-dependent physiological decline also occur in the context of hormonal and metabolic changes, affecting interconnected cellular networks...
February 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29453225/prevalence-of-age-related-macular-degeneration-associated-genetic-risk-factors-and-4-year-progression-data-in-the-irish-population
#10
Emma Connolly, Maedbh Rhatigan, Aisling M O'Halloran, Katherine Alyson Muldrew, Usha Chakravarthy, Mark Cahill, Rose Anne Kenny, Sarah L Doyle
BACKGROUND/AIMS: Age-related macular degeneration (AMD) is estimated to affect 196 million people >50 years old globally. Prevalence of AMD-associated genetic risk factors and rate of disease progression are unknown in Ireland. METHODS: Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed...
February 16, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29435619/acetamidase-as-a-dominant-recyclable-marker-for-komagataella-phaffii-strain-engineering
#11
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
#12
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
#13
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
#14
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
#15
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. However, most genetic studies to date have focused on case-control studies of late AMD (choroidal neovascularization or geographic atrophy). 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 2721 Caucasians from a large multi-center randomized clinical trial, the Age-Related Eye Disease Study...
March 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29339146/microspheres-as-intraocular-therapeutic-tools-in-chronic-diseases-of-the-optic-nerve-and-retina
#16
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
#17
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
#18
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 a similar phenotype but are different in their clinical manifestations, responses to treatment and prognosis. Whether PCV is a subtype of AMD or a distinct entity from nAMD remains unknown. Therefore, we performed a whole-exome sequencing 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...
February 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
#19
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 23, 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
#20
REVIEW
Hemal Mehta, Adnan Tufail, Vincent Daien, Aaron Y 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
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