Genetic Association Analysis of Drusen Progression
نویسندگان
چکیده
منابع مشابه
Genetic Association Analysis of Drusen Progression
PURPOSE Age-related macular degeneration is a common form of vision loss affecting older adults. The etiology of AMD is multifactorial and is influenced by environmental and genetic risk factors. In this study, we examine how 19 common risk variants contribute to drusen progression, a hallmark of AMD pathogenesis. METHODS Exome chip data was made available through the International AMD Genomi...
متن کاملAssociation analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration
PURPOSE To assess the association of gender, cigarette smoking, body-mass index, and nine genetic risk variants with cuticular drusen (CD), a well recognized subtype of age-related macular degeneration (AMD). METHODS A total of 757 patients with AMD, including 217 patients with CD, and 553 control individuals were interviewed with a questionnaire and underwent an ophthalmic examination. Venou...
متن کاملMolecular genetic heterogeneity in autosomal dominant drusen.
OBJECTIVE Autosomal dominant drusen is of particular interest because of its phenotypic similarity to age related macular degeneration. Currently, mutation R345W of EFEMP1 and, in a single pedigree, linkage to chromosome 6q14 have been causally related to the disease. We proposed to investigate and quantify the roles of EFEMP1 and the 6q14 locus in dominant drusen patients from the UK and USA. ...
متن کاملMarginal Analysis of A Population-Based Genetic Association Study of Quantitative Traits with Incomplete Longitudinal Data
A common study to investigate gene-environment interaction is designed to be longitudinal and population-based. Data arising from longitudinal association studies often contain missing responses. Naive analysis without taking missingness into account may produce invalid inference, especially when the missing data mechanism depends on the response process. To address this issue in the ana...
متن کاملAssociation of Reticular Pseudodrusen and Early Onset Drusen
Purpose. To report an association between reticular pseudodrusen, located above the retinal pigment epithelium (RPE), and Early Onset Drusen (EOD) as described using Spectral-Domain Optical Coherence Tomography (SD-OCT). Methods. Eight patients (16 eyes) with EOD were examined. EOD were classified into three entities called Large Colloid Drusen (LCD), Malattia Leventinese (ML), and Cuticular Dr...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2016
ISSN: 1552-5783
DOI: 10.1167/iovs.15-18571