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Amd genetic

Valencia Hui Xian Foo, Yasuo Yanagi, Quang Duc Nguyen, Charumathi Sabanayagam, Sing Hui Lim, Kumari Neelam, Jie Jin Wang, Paul Mitchell, Ching-Yu Cheng, Tien Yin Wong, Chui Ming Gemmy Cheung
We aimed to determine the 6-year incidence and risk factors of age-related macular degeneration (AMD) in first and second generations of Singaporean Indians. Baseline examination was conducted in 2007-9 and 6-year propsective follow-up examination of this Indian population in 2013-5. All participants underwent interviews with questionnaires and comprehensive medical and eye examinations. Incidence was age-standardized to Singaporean 2010 census. Risk factors associated with AMD incidence were assessed and compared between first and second generations of immigrants...
June 11, 2018: Scientific Reports
M J Geerlings, E B Volokhina, E K de Jong, N van de Kar, M Pauper, C B Hoyng, L P van den Heuvel, A I den Hollander
Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and age-related macular degeneration (AMD). We performed sequence analysis of the complement genes CFH, CFI, and C3 in 866 aHUS/C3G and 697 AMD patients. In total we identified 505 low frequency alleles, representing 121 unique variants, of which 51 are novel. CFH contained the largest number of unique low frequency variants (n=64; 53%), followed by C3 (n=32; 26%) and CFI (n=25; 21%)...
June 11, 2018: Clinical Genetics
Mikhail Linetsky, Karina S Bondelid, Sofiya Losovskiy, Vadym Gabyak, Mario J Rullo, Thomas I Stiadle, Vasu Munjapara, Priyali Saxena, Duoming Ma, Yu-Shiuan Cheng, Andrew M Howes, Emeka Udeigwe, Robert G Salomon
We previously discovered that oxidative cleavage of docosahexaenoate (DHA), which is especially abundant in the retinal photoreceptor rod outer segments and retinal pigmented endothelial (RPE) cells, generates 4-hydroxy-7-oxo-5-heptenoate (HOHA) lactone, and that HOHA lactone can enter RPE cells that metabolize it through conjugation with glutathione (GSH). The consequent depletion of GSH results in oxidative stress. We now find that HOHA-lactone induces upregulation of the antioxidant transcription factor Nrf2 in ARPE-19 cells...
June 8, 2018: Chemical Research in Toxicology
Joseph B Lin, Abdoulaye Sene, Luke A Wiley, Andrea Santeford, Eric Nudleman, Rei Nakamura, Jonathan B Lin, Harsh V Moolani, Rajendra S Apte
Perturbations in WNT signaling are associated with congenital eye disorders, including familial exudative vitreoretinopathy and Norrie disease. More recently, activation of the WNT pathway has also been shown to be associated with age-related macular degeneration (AMD). In this study, we identified that in choroidal neovascular membranes from AMD patients, β-catenin is activated specifically in the vascular endothelium, suggesting that WNT promotes pathologic angiogenesis by directly affecting vascular endothelial cells...
June 1, 2018: Experimental Eye Research
Akash K George, Mahavir Singh, Rubens Petit Homme, Avisek Majumder, Harpal S Sandhu, Suresh C Tyagi
Age-related macular degeneration (AMD) is a leading cause of blindness and is becoming a global crisis since affected people will increase to 288 million by 2040. Genetics, age, diabetes, gender, obesity, hypertension, race, hyperopia, iris-color, smoking, sun-light and pyroptosis have varying roles in AMD, but oxidative stress-induced inflammation remains a significant driver of pathobiology. Eye is a unique organ as it contains a remarkable oxygen-gradient that generates reactive oxygen species (ROS) which upregulates inflammatory pathways...
2018: International Journal of Ophthalmology
Marie Pastor, Sandra Johnen, Nina Harmening, Mickäel Quiviger, Julie Pailloux, Martina Kropp, Peter Walter, Zoltán Ivics, Zsuzsanna Izsvák, Gabriele Thumann, Daniel Scherman, Corinne Marie
The anti-angiogenic and neurogenic pigment epithelium-derived factor (PEDF) demonstrated a potency to control choroidal neovascularization in age-related macular degeneration (AMD) patients. The goal of the present study was the development of an efficient and safe technique to integrate, ex vivo, the PEDF gene into retinal pigment epithelial (RPE) cells for later transplantation to the subretinal space of AMD patients to allow continuous PEDF secretion in the vicinity of the affected macula. Because successful gene therapy approaches require efficient gene delivery and stable gene expression, we used the antibiotic-free pFAR4 mini-plasmid vector to deliver the hyperactive Sleeping Beauty transposon system, which mediates transgene integration into the genome of host cells...
June 1, 2018: Molecular Therapy. Nucleic Acids
Mariann Kremlitzka, Maartje J Geerlings, Sarah de Jong, Bjorn Bakker, Sara C Nilsson, Sascha Fauser, Carel B Hoyng, Eiko K de Jong, Anneke I den Hollander, Anna M Blom
Age-related macular degeneration (AMD) is a progressive disease of the central retina and the leading cause of irreversible vision loss in the western world. The involvement of abnormal complement activation in AMD has been suggested by association of variants in genes encoding complement proteins with disease development. A low-frequency variant (p.P167S) in the complement component C9 (C9) gene was recently shown to be highly associated with AMD, however its functional outcome remains largely unexplored. In this study, we reveal five novel rare genetic variants (p...
May 14, 2018: Human Molecular Genetics
Kenneth J Katschke, Hongkang Xi, Christian Cox, Tom Truong, Yann Malato, Wyne P Lee, Brent McKenzie, Rommel Arceo, Jianhua Tao, Linda Rangell, Mike Reichelt, Lauri Diehl, Justin Elstrott, Robby M Weimer, Menno van Lookeren Campagne
Geographic atrophy (GA), the advanced form of dry age-related macular degeneration (AMD), is characterized by progressive loss of retinal pigment epithelium cells and photoreceptors in the setting of characteristic extracellular deposits and remains a serious unmet medical need. While genetic predisposition to AMD is dominated by polymorphisms in complement genes, it remains unclear how complement activation contributes to retinal atrophy. Here we demonstrate that complement is activated on photoreceptor outer segments (POS) in the retina peripheral to atrophic lesions associated with GA...
May 9, 2018: Scientific Reports
Michael K Lin, Jin Yang, Chun Wei Hsu, Anuradha Gore, Alexander G Bassuk, Lewis M Brown, Ryan Colligan, Jesse D Sengillo, Vinit B Mahajan, Stephen H Tsang
High-temperature requirement protein A1 (HTRA1) is a serine protease secreted by a number of tissues including retinal pigment epithelium (RPE). A promoter variant of the gene encoding HTRA1 is part of a mutant allele that causes increased HTRA1 expression and contributed to age-related macular degeneration (AMD) in genomewide association studies. AMD is characterized by pathological development of drusen, extracellular deposits of proteins and lipids on the basal side of RPE. The molecular pathogenesis of AMD is not well understood, and understanding dysregulation of the extracellular matrix may be key...
May 5, 2018: Aging Cell
Margaret D Weinroth, H Morgan Scott, Bo Norby, Guy H Loneragan, Noelle R Noyes, Pablo Rovira, Enrique Doster, Xiang Yang, Dale R Woerner, Paul S Morley, Keith E Belk
Treatment of food producing animals with antimicrobial drugs (AMD) is controversial because of concerns regarding promotion of antimicrobial resistance (AMR). To investigate this concern, resistance genes in metagenomic bovine fecal samples during a clinical trial were analyzed to assess the impacts of treatment on beef feedlot cattle resistomes. Four groups of cattle were exposed, using a 2x2 factorial design, to different regimens of antimicrobial treatment. Injections of ceftiofur crystalline free acid (a third generation cephalosporin) were used to treat all cattle in treated pens vs...
May 4, 2018: Applied and Environmental Microbiology
Blanca Molins, Sara Romero-Vázquez, Pablo Fuentes-Prior, Alfredo Adan, Andrew D Dick
Age-related macular degeneration (AMD), a retinal degenerative disease, is the leading cause of central vision loss among the elderly population in developed countries and an increasing global burden. The major risk is aging, compounded by other environmental factors and association with genetic variants for risk of progression. Although the etiology of AMD is not yet clearly understood, several pathogenic pathways have been proposed, including dysfunction of the retinal pigment epithelium, inflammation, and oxidative stress...
2018: Frontiers in Immunology
Christina Kiel, Bernhard H F Weber, Felix Grassmann
Age-related macular degeneration (AMD) is a complex disease with both environmental and genetic factors influencing disease risk. Genome-wide case-control association studies, candidate gene analyses, and epidemiological studies reinforced the notion that AMD is predominantly a disease of an impaired complement system and an altered high-density lipoprotein (HDL) metabolism. Recent reports demonstrated the pleiotropic role of the complement system and HDL in complex diseases such as cardiovascular disease, autoimmune disorders, cancer, and Alzheimer's disease...
2018: Advances in Experimental Medicine and Biology
Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier
EMAP (Extensive Macular Atrophy with Pseudodrusen) is a maculopathy we recently described that shares pseudodrusen and geographic atrophy with Age-related Macular Disease (AMD). EMAP differs from AMD by an earlier age of onset (50-55 years) and a characteristic natural history comprising a night blindness followed by a severe visual loss. In a prospective case-control study, ten referral centers included 115 EMAP (70 women, 45 men) patients and 345 matched controls to appraise dietary, environmental, and genetic risk factors...
May 1, 2018: Scientific Reports
Jordi Corominas, Johanna M Colijn, Maartje J Geerlings, Marc Pauper, Bjorn Bakker, Najaf Amin, Laura Lores Motta, Eveline Kersten, Alejandro Garanto, Joost A M Verlouw, Jeroen G J van Rooij, Robert Kraaij, Paulus T V M de Jong, Albert Hofman, Johannes R Vingerling, Tina Schick, Sascha Fauser, Eiko K de Jong, Cornelia M van Duijn, Carel B Hoyng, Caroline C W Klaver, Anneke I den Hollander
PURPOSE: Genome-wide association studies and targeted sequencing studies of candidate genes have identified common and rare variants that are associated with age-related macular degeneration (AMD). Whole-exome sequencing (WES) studies allow a more comprehensive analysis of rare coding variants across all genes of the genome and will contribute to a better understanding of the underlying disease mechanisms. To date, the number of WES studies in AMD case-control cohorts remains scarce and sample sizes are limited...
April 26, 2018: Ophthalmology
Laura Lorés-Motta, Eiko K de Jong, Anneke I den Hollander
Precision medicine aims to improve patient care by adjusting medication to each patient's individual needs. Age-related macular degeneration (AMD) is a heterogeneous eye disease in which several pathways are involved, and the risk factors driving the disease differ per patient. As a consequence, precision medicine holds promise for improved management of this disease, which is nowadays a main cause of vision loss in the elderly. In this review, we provide an overview of the studies that have evaluated the use of molecular biomarkers to predict response to treatment in AMD...
April 26, 2018: Molecular Diagnosis & Therapy
Weiping Sun, Yongquan Wu, Yumei Wen, Ming Guo, Haibin Zhang
INTRODUCTION: To investigate the relationships between lipase gene polymorphisms and coronary artery disease (CAD) risk. EVIDENCE ACQUISITION: We searched PubMed, Embase and ISI web of science database for articles estimated the association of S447X polymorphism with CAD. EVIDENCE SYNTHESIS: Twelve-five articles were included in the meta-analysis. We found the G allele S447X polymorphism could reduce CAD risk by approximately 22% 95% CI: 0...
April 20, 2018: Minerva Cardioangiologica
Stuart Cantsilieris, Bradley J Nelson, John Huddleston, Carl Baker, Lana Harshman, Kelsi Penewit, Katherine M Munson, Melanie Sorensen, AnneMarie E Welch, Vy Dang, Felix Grassmann, Andrea J Richardson, Robyn H Guymer, Tina A Graves-Lindsay, Richard K Wilson, Bernhard H F Weber, Paul N Baird, Rando Allikmets, Evan E Eichler
Structural variation and single-nucleotide variation of the complement factor H ( CFH ) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS). To understand its diversity and evolution, we performed high-quality sequencing of this ∼360-kbp locus in six primate lineages, including multiple human haplotypes. Comparative sequence analyses reveal two distinct periods of gene duplication leading to the emergence of four CFH -related ( CFHR ) gene paralogs ( CFHR2 and CFHR4 ∼25-35 Mya and CFHR1 and CFHR3 ∼7-13 Mya)...
May 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
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
V Pennone, A Lehardy, A Coffey, O Mcauliffe, K Jordan
AIMS: The aims of this study were to characterize the genetic diversity of Listeria monocytogenes isolates obtained from commercial mushroom production, to establish the persistence, recontamination 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
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 24, 2018: Experimental Eye Research
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