نتایج جستجو برای: ژن loc387715

تعداد نتایج: 15841  

Journal: :PLoS ONE 2008
Johanna Jakobsdottir Yvette P. Conley Daniel E. Weeks Robert E. Ferrell Michael B. Gorin

BACKGROUND Age-related maculopathy (ARM) is a common cause of visual impairment in the elderly populations of industrialized countries and significantly affects the quality of life of those suffering from the disease. Variants within two genes, the complement factor H (CFH) and the poorly characterized LOC387715 (ARMS2), are widely recognized as ARM risk factors. CFH is important in regulation ...

Journal: :PLoS Medicine 2007
Anne E Hughes Nick Orr Chris Patterson Hossein Esfandiary Ruth Hogg Vivienne McConnell Giuliana Silvestri Usha Chakravarthy

BACKGROUND Age-related macular degeneration (AMD) is the major cause of blindness in the elderly. Those with the neovascular end-stage of disease have irreversible loss of central vision. AMD is a complex disorder in which genetic and environmental factors play a role. Polymorphisms in the complement factor H (CFH) gene, LOC387715, and the HTRA1 promoter are strongly associated with AMD. Smokin...

Journal: :Molecular Vision 2008
Peter J Francis Hong Zhang Andrew DeWan Josephine Hoh Michael L Klein

PURPOSE To estimate the joint effects of single nucleotide polymorphisms (SNPs) in the genes complement factor H (CFH), HtrA serine peptidase 1 (HTRA1), and age-related maculopathy susceptibility 2 (LOC387715/ARMS2) in a Caucasian age related macular degeneration (AMD) case-control cohort. METHODS We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10...

Journal: :Investigative ophthalmology & visual science 2011
Beatrix Feigl Dingcai Cao Charles P Morris Andrew J Zele

PURPOSE To determine whether participants with normal visual acuity, no ophthalmoscopically signs of age-related maculopathy (ARM) in both eyes, and who are carriers of the CFH, LOC387715, and HRTA1 high-risk genotypes (gene-positive) have impaired rod- and cone-mediated mesopic visual function compared with persons who do not carry the risk genotypes (gene-negative). METHODS Fifty-three Cauc...

Journal: :Molecular Vision 2008
Itay Chowers Tal Meir Michal Lederman Nitza Goldenberg-Cohen Yoram Cohen Eyal Banin Edward Averbukh Itzhak Hemo Ayala Pollack Ruth Axer-Siegel Orly Weinstein Josephine Hoh Donald J. Zack Tural Galbinur

PURPOSE Single nucleotide polymorphisms (SNPs) in the tightly linked LOC387715/ARMS2 and HTRA1 genes have been associated with age-related macular degeneration (AMD). We tested whether these SNPs are associated with AMD in Israeli populations, if they underlie variable phenotype and response to therapy in neovascular AMD (NVAMD), and if HTRA1 expression in vivo is associated with its promoter v...

Journal: :JAMA 2007
Johanna M Seddon Peter J Francis Sarah George Dennis W Schultz Bernard Rosner Michael L Klein

CONTEXT Studies have reported that single-nucleotide polymorphisms in the genes CFH and LOC387715 are associated with age-related macular degeneration (AMD). OBJECTIVE To assess whether these genetic variants have prognostic importance for progression to advanced AMD and related visual loss. DESIGN, SETTING, AND PARTICIPANTS Prospective analysis of 1466 white participants in the Age-Related...

Journal: :Archives of ophthalmology 2011
Lintje Ho Redmer van Leeuwen Jacqueline C M Witteman Cornelia M van Duijn André G Uitterlinden Albert Hofman Paulus T V M de Jong Johannes R Vingerling Caroline C W Klaver

OBJECTIVE To investigate whether dietary nutrients can reduce the genetic risk of early age-related macular degeneration (AMD) conferred by the genetic variants CFH Y402H and LOC387715 A69S in a nested case-control study. METHODS For 2167 individuals (≥55 years) from the population-based Rotterdam Study at risk of AMD, dietary intake was assessed at baseline using a semiquantitative food freq...

Journal: :Archives of ophthalmology 2007
Debra A Schaumberg Susan E Hankinson Qun Guo Eric Rimm David J Hunter

OBJECTIVES To delineate the magnitude of susceptibility to age-related macular degeneration (AMD) due to common variants in the gene for complement factor H (CFH) and the predicted gene LOC387715 and to determine whether these variants interact with modifiable risk factors. METHODS We compared cases who developed AMD (n = 457) with 1071 age- and sex-matched control subjects in a prospective n...

Journal: :Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2010
Nicolas Leveziel Nathalie Puche Jennyfer Zerbib Pascale Benlian Gabriel Coscas Gisèle Soubrane Eric Souied

Age related macular degeneration (AMD) is the leading cause of vision loss in the elderly in developed countries. Genetic factors play a major role in this multifactorial and polygenic disease. Genomewide analysis identified two loci on 1q25-31 and 10q26 chromosomes associated with AMD, and association studies highlighted the implication of SNPs located in the complement H factor gene (CFH) on ...

Journal: :Archives of ophthalmology 2011
Yuhong Chen Jiexi Zeng Chao Zhao Kevin Wang Elizabeth Trood Jeanette Buehler Matthew Weed Daniel Kasuga Paul S Bernstein Guy Hughes Victoria Fu Jessica Chin Clara Lee Maureen Crocker Matthew Bedell Francesca Salasar Zhenglin Yang Michael Goldbaum Henry Ferreyra William R Freeman Igor Kozak Kang Zhang

OBJECTIVES To evaluate the independent and joint effects of genetic factors and environmental variables on advanced forms of age-related macular degeneration (AMD), including geographic atrophy and choroidal neovascularization, and to develop a predictive model with genetic and environmental factors included. METHODS Demographic information, including age at onset, smoking status, and body ma...

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