A Disease-Causing Mutation in C1QTNF5 Shows Altered Affinity for Complement Factor H and the Y402H Polymorphism, Which Is Associated With Increased Risk of Age-Related Macular Degeneration
نویسندگان
چکیده
F. Slingsby1, X. Shu1, A. Herbert2, M. Lyon3, L. Mackay2, J. Creanor2, D. Uhrin2, P. Barlow2, R. Sim4, A. Wright1. 1MRC Human Genetics Unit, Edinburgh, United Kingdom; 2School of Chemistry and Biological Sciences, University of Edinburgh, Edinburgh Biomolecular NMR Unit, Edinburgh, United Kingdom; 3University of Manchester, Department of Medical Oncology, Manchester, United Kingdom; 4Department of Biochemistry, University of Oxford, MRC Immunochemistry Unit, Oxford, United Kingdom.
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Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and is characterized by progressive degeneration of the retinal pigment epithelium and secondary photoreceptor loss, resulting in visual loss. Etiological research suggests that age related macular degeneration is a complex disease, caused by the interactions of several genetic and enviro...
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PURPOSE To determine the frequency of complement factor H (Y402H) and age related macular degeneration susceptibility gene 2 (A69S) single nucleotide polymorphisms in patients with age-related macular degeneration (AMD) and in matched non-AMD controls in an Iranian population. METHODS Seventy patients with AMD and 86 age- and sex-matched controls were recruited and examined. Peripheral blood ...
متن کاملProtective effect of complement factor B and complement component 2 variants in age-related macular degeneration.
Age-related macular degeneration (AMD) is a devastating disorder of the central retina, causing significant visual impairment for 7.5 million elderly Americans. Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the complement factor H gene is a recognized risk factor for AMD, as is the A69S variant in the poorly characterized LOC387715 gene. Recently, polym...
متن کاملAssociation of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients.
PURPOSE Age-related macular degeneration (AMD), with its complex traits and multiple risk factors, is the leading cause of blindness in the elderly. A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD has been recently identified in white patients. This study was conducted to investigate the association between the Y402H polymorphism in CFH and ne...
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Age-related macular degeneration (AMD) is the leading cause of blindness in developed nations and has been associated with complement dysregulation in the central retina. The Y402H polymorphism in the complement regulatory protein factor H (CFH) can confer a >5-fold increased risk of developing AMD and is present in approximately 30% of people of European descent. CFH, in conjunction with other...
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