Importance of genetic polymorphisms in the response to age-related macular degeneration treatment

Abstract

Age-related macular degeneration (AMD) is a degenerative disorder that affects the central retina and involves the Bruch's membrane, the retinal pigment epithelium and the photoreceptors. Recent studies have shown that polymorphisms of the CFH, LOC387715 and VEGF genes are associated with AMD. Herein, we review the literature to analyze the association between the main genetic polymorphisms and the response to the existing therapeutic modalities. Patients with CFH high-risk alleles show a poorer response to preventive treatment of AMD with antioxidants and zinc. The association between genetic polymorphisms and response to photodynamic therapy and antiangiogenic drugs, however, is controversial until now.Keywords: Macular degeneration/genetics; Antioxidants; Polymorphism, genetic; Treatment outcome RESUMOA degeneração macular relacionada à idade (DMRI) é uma doença degenerativa que afeta a retina central e envolve a membrana de Bruch, o epitélio pigmentar da retina e os fotorreceptores. Estudos recentes têm mostrado que polimorfismos dos genes CFH, LOC387715 e VEGF estão associados com a DMRI. Neste trabalho, é feita uma revisão da literatura para análise da associação entre os principais polimorfismos genéticos e a resposta às diferentes modalidades terapêuticas existentes. Observa-se que os pacientes portadores dos alelos de risco do gene CFH apresentam uma pior resposta ao tratamento preventivo da DMRI com antioxidantes e zinco. Já a associação entre o polimorfismo genético e a resposta à terapia fotodinâmica e às drogas antiangiogênicas é, até o momento, controversa.

Epidemiological profile of age-related macular degeneration patients in Federal University of Parana, Brazil

“…However a variety of factors are involved in its pathogenesis. The hereditary polygenic component is among the main risk factors for developing the disease (15,16) , and a variety of other factors are involved, including ethnicity, genetics (17,18) , family history, exposure to UVB rays, vitamins deficiency (19) , high body mass index (BMI; range 25 to 30 -overweight and > 30 -obese) and smoking. (20) In this study we tried to assess the epidemiological profile of AMD and the presence of known risk factors in AMD cases, such as age, obesity, ethnicity and smoking habits.…”

CFH Y402H polymorphism and response to intravitreal Ranibizumab in brazilian patients with neovascular age-related macular degeneration

“…A ge-related macular degeneration (AMD) is a progressive disorder that affects the central retina, with primary involvement of the outer retinal layers 1 . It is considered the leading cause of severe visual acuity loss in industrialized countries and is responsible for a poor quality of life among the affected population 2,3 .…”

“…The AMD-associated genes might interact with other genes or nongenetic risk factors to produce the clinical phenotypes. Recent studies have shown that some genetic single nucleotide polymorphisms (SNPs) are associated with AMD 1,7,8 . A genetic variation in the complement factor H (CFH) gene on chromosome 1q32 is one of the most studied gene polymorphisms related to AMD.…”

Increased intercellular adhesion molecule-1 immunoreactivity in the sclera-choroid complex in hypercholesterolemia experimental model

“…Conditions associated with intraocular neovascularisation include retinopathy of prematurity, diabetic retinopathy, neovascular glaucoma, and age-related macular degeneration (AMD). AMD is a multifactorial disease that can be triggered by genetic, environmental, demographic, dietary, clinical, ocular, and lifestyle factors (1,2) .…”