RESUMO
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.
Assuntos
Estudo de Associação Genômica Ampla , Glaucoma/genética , Glaucoma/fisiopatologia , Povo Asiático/genética , Estudos de Casos e Controles , Perfilação da Expressão Gênica , Frequência do Gene , Genótipo , Glaucoma/etnologia , Humanos , Disco Óptico/patologia , Nervo Óptico/patologia , Fenótipo , Polimorfismo de Nucleotídeo Único , População Branca/genéticaRESUMO
PURPOSE: The purpose of this study is to examine risk factors for nuclear lens opacification in citizens of Reykjavik. METHODS: 1,045 persons, 583 females and 462 males aged 50 years and older, were randomly sampled and underwent a detailed eye examination and answered a questionnaire. In all Scheimpflug photography of the anterior eye segment was done including the lens as well as retroilluminated photography of the lens. These photographs were used for the diagnosis of lens opacification. The data was analyzed using a logistic regression model. RESULTS: An increased risk for all grades of nuclear opacifications was found with ageing (OR = 1.228, 95% CI = 1.192-1.264, p = 0.000), cigarette smoking for more than 20 pack/years (OR = 2.521, 95% CI = 1.521-4.125, p = 0.000) and pipe or cigar smoking (OR = 2.478, 95% CI = 1.200-5.116, p = 0.014). Outdoor exposure, cortical lens opacification grade II and III and computer usage were not found to be linked to higher risk of nuclear opacification. No correlation was found between nuclear opacification and the consumption of vitamins, herring, sardines and shrimps, cod-liver oil or plant oil, nor were iris color, hyperopia, systemic steroid use, cardiovascular disease, diabetes, glaucoma and pseudoexfoliation found to have a significant effect. CONCLUSIONS: Ageing is a major risk factor for nuclear lens opacification, and smoking is a major modifiable risk factor. Cortical and nuclear lens opacifications do not share the same modifiable risk factors.