The role of molecular genetic factors in age-related macular degeneration

Almeida, Luciana Negrão Frota de; Carolino, Rachel Melilo; Sperandio, Diogo Cazelli; Nehemy, Márcio Bittar; Marco, Luiz Armando De

doi:10.1590/s0004-27492009000400027

Cited by 6 publications

(4 citation statements)

References 40 publications

(136 reference statements)

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“…41 This result was demonstrated in an Austrian and Brazilian study of several AMD associations, including APOE where the e4 allele conferred protection. 42,43 Recently, 3 studies assessed the association of the APOE e2/e3/e4 polymorphism with primary open-angle glaucoma (POAG). Wang et al found that the e4/e4 genotype was a risk factor; however, 2 other studies, including a meta-analysis by Song et al, found that this polymorphism was not associated with POAG susceptibility.…”

Section: Discussionmentioning

confidence: 99%

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Mrad

Fekih-Mrissa

Wathek³

et al. 2016

Clin Appl Thromb Hemost

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Apolipoprotein E ( APOE) is a member of the apolipoprotein gene family. APOE is polymorphic with 3 main allelic types: ∊2, ∊3, and ∊4. Certain of these alleles have been associated with higher vascular risk. However, the association of APOE genotypes with retinal biomarkers and risk of retinal stroke is less clear. This study evaluated the role of APOE polymorphisms in retinal vein occlusion (RVO). In the present study, 2-point mutations coding amino acid residues 112 and 158 were amplified using the polymerase chain reaction (PCR) from DNA extracted from Tunisian participants. APOE genotypes were determined by multiplex PCR followed by molecular hybridization. Eighty-eight patients (26 women and 62 men) and 100 age- and gender-matched healthy participants were enrolled. The statistical study revealed a higher frequency of the ∊4 allele in patients as compared to controls (27.3% vs 9%) with a significant association of the ∊4 allele with the disease ( P < 10, P < 10, odds ratio [OR] = 3.8, 95% confidence interval [CI] = 2.1-6.8). The frequency of the ∊3 allele was significantly lower in the patients with RVO compared to the controls (60.2% vs 82.5%, respectively; P < 10, P < 10, OR = 0.32, 95% CI = 0.19-0.53). The ∊3 allele seems to be protective against the disease. There was no association between the APO ∊2 allele and RVO. The association of APOE allele and genotype with RVO requires further investigation in different populations.

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Section: Discussionmentioning

confidence: 99%

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Mrad

Fekih-Mrissa

Wathek³

et al. 2016

Clin Appl Thromb Hemost

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“…Etiological research suggests that AMD is a complex disease, caused by the actions and interactions of multiple genes and environmental factors [1][2][3][4][5][6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Homozygosity for the +674C>T polymorphism on VEGF gene is associated with age-related macular degeneration in a Brazilian cohort

Almeida

Melilo-Carolino

Veloso

et al. 2011

Graefes Arch Clin Exp Ophthalmol

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“…The first genetic predisposition linked to AMD was mutations in the gene that encodes complement factor H (CFH), a known inhibitor of both the alternate and classical complement pathways. 10 Current conception is that certain CFH polymorphisms confer decreased 122 Ruwan A. Silva et al Seminars in Ophthalmology protein function leading to "unchecked" complement activation, serving as the inflammatory stimulus for drusen formation 11 as well as causing damage to Bruch's membrane. [12][13][14] Though numerous alleles have since been identified with associated increased odds ratios for developing AMD, it is interesting to note that even a relatively common polymorphism of CFH (Y402H) may confer as much as a 69% attributable risk towards developing neovascular AMD.…”

Section: Introductionmentioning

confidence: 99%

“…[12][13][14] Though numerous alleles have since been identified with associated increased odds ratios for developing AMD, it is interesting to note that even a relatively common polymorphism of CFH (Y402H) may confer as much as a 69% attributable risk towards developing neovascular AMD. 10,15 Neovascular AMD is heralded by the development of a choroidal neovascular membrane (CNV). The initial impetus is weakening of Bruch's membrane (i.e.…”

Section: Introductionmentioning

confidence: 99%

Radiation Treatment for Age-Related Macular Degeneration

Silva

Moshfeghi

Singh

et al. 2011

Seminars in Ophthalmology

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Age-related macular degeneration (AMD) remains a devastating cause of visual loss among elderly individuals. While considerable progress has been made towards combating the disease, most recently with intravitreal anti-VEGF agents, visual outcomes are still limited by continued retinal pigment epithelium (RPE) degeneration and subsequent neurosensory retinal atrophy. Among the promising new treatment options being explored, radiotherapy appears apt to address the multifactorial etiology of AMD. Current investigative studies underway will hopefully yield clinical efficacy to complement this theoretical suitability for arresting visual loss.

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The role of molecular genetic factors in age-related macular degeneration

Cited by 6 publications

References 40 publications

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Role of the Apolipoprotein E Polymorphisms in the Development of Retinal Vein Occlusion in a Tunisian Population: A Case–Control Study

Homozygosity for the +674C>T polymorphism on VEGF gene is associated with age-related macular degeneration in a Brazilian cohort

Radiation Treatment for Age-Related Macular Degeneration

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