Genetics of age-related macular degeneration

Ting, Andrew; Lee, Thomas K.M.; MacDonald, Ian M.

doi:10.1097/icu.0b013e32832f8016

Cited by 53 publications

(43 citation statements)

References 159 publications

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“…23,26,36 -39 Other genes such as complement factor B, C2, C3, SCARB1, and APOE are also implicated in AMD. 40,41 However, due to their low allelic frequencies, the inclusion of these genes alongside both CFH and ARMS2/LOC387715 in this study would not have allowed sufficient power to detect an effect. The prevalence of the different clinical forms of AMD was similar to other observations in Caucasian populations.…”

Section: Discussionmentioning

confidence: 82%

Genotypic Influences on Severity of Exudative Age-Related Macular Degeneration

Leveziel¹,

Puche²,

Richard

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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Section: Discussionmentioning

confidence: 82%

Genotypic Influences on Severity of Exudative Age-Related Macular Degeneration

Leveziel¹,

Puche²,

Richard

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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“…AMD is a complex disorder known to result from environmental and genetic factors (Seddon et al, 2011). While an array of genes have been identified as susceptibility factors to the disease (Ting et al, 2009;Yachimski et al, 2009), the mechanism of AMD progression has not been well understood.…”

Section: Introductionmentioning

confidence: 99%

Roles of Three Common VEGF Polymorphisms in the Risk of Age-Related Macular Degeneration

Liu

Hou

Lang

et al. 2014

Genetic Testing and Molecular Biomarkers

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Associations between vascular endothelial growth factor (VEGF) polymorphisms (rs833061, rs1413711, and rs3025039) and risk of age-related macular degeneration (AMD) have been extensively studied, but the currently available results are contentious rather than conclusive. Therefore, we performed the present metaanalysis to further assess the associations. Literature search in PubMed, Embase, and Web of Science databases was conducted until April 2013. The strength of the associations between VEGF polymorphisms and AMD risk was estimated by pooled odds ratios (ORs) and 95% confidence intervals (CIs). Both models of fixed effects and random effects were performed to summarize the pooled ORs. All data were analyzed by Stata software 12.0. The meta-analysis results based on nine case-control studies with 2427 cases and 2037 controls showed that rs833061 had protective effects on AMD risk (TT vs. CT + CC: OR = 0.58, 95% CI = 0.41-0.81), whereas rs1413711 (TT vs. CT + CC: OR = 1.46, 95% CI = 1.10-1.93) and rs3025039 (TT vs. CC: OR = 1.87, 95% CI = 1.15-3.02; TT vs. CT + CC: OR = 2.09, 95% CI = 1.30-3.37) represented as risk factors for AMD. Subgroup analysis by ethnicity suggested significantly reduced risk in Caucasians (TT vs. CT + CC: OR = 0.60, 95% CI = 0.36-0.99; T vs. C: OR = 0.89, 95% CI = 0.78-1.00) and Asians (TT + CT vs. CC: OR = 0.57, 95% CI = 0.34-0.96; TT vs. CT + CC: OR = 0.54, 95% CI = 0.33-0.90) for rs833061, yet elevated risk in Caucasians (TT vs. CT + CC: OR = 2.05, 95% CI = 1.24-3.38) for rs1413711 and in Asians (TT vs. CC: OR = 2.06, 95% CI = 1.24-3.43; TT vs. CC: OR = 2.34, 95% CI = 1.42-3.89) for rs3025039. In stratified analysis by type of AMD, rs833061 was observed to decrease wet AMD risk, while rs1413711 and rs3025039 were found to increase the risk of wet AMD. Based on the currently available data, this meta-analysis suggests that the VEGF polymorphisms may be associated with risk of AMD, particularly wet AMD.

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“…Antioxidants such as vitamins C, E, and carotenoids, glutathione peroxidase, metallathionein, melanin, SOD, catalase, GSTs, glutathione, and ascorbate occur in high concentrations in the RPE cells [6,7,10] . Several studies have shown that human donor AMD eyes contain higher levels of protein adducts resulting from the oxidative modification of carbohydrates and lipids and higher levels of antioxidant enzymes compared with non-AMD eyes, which indicates that oxidative stress plays an important role in AMD [23,24] . The role of oxidative stress is further strengthened by epidemiological studies demonstrating increased risk with smoking, a potent oxidizing stress, and decreased risk with diets rich in antioxidants such as lutein/zeaxanthin [8] .…”

Section: Discussionmentioning

confidence: 99%

“…CFH dysfunction may lead to excessive inflammation and tissue damage involved in the pathogenesis of AMD [27] . Also, the role of SNPs of many other genes including fibulin 5, SOD, apolipoprotein E, and chemokine receptor 3 have been investigated in AMD pathogenesis [23,24,28] .…”

Section: Discussionmentioning

confidence: 99%

Glutathione S-Transferase M1, <i>GSTT1</i> and <i>GSTP1</i> Genetic Polymorphisms and the Risk of Age-Related Macular Degeneration

Güven¹,

Görgün

Ünal

et al. 2011

Ophthalmic Res

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Purpose: To determine the possible effects of glutathione S-transferase (GST) M1, GSTT1 and GSTP1 genetic polymorphisms on the risk of developing age-related macular degeneration (AMD). Patients and Methods: This case-control study included a total of 120 patients with AMD (65 with dry-type AMD and 55 with wet-type AMD) and 198 disease-free controls. GSTM1 and GSTT1 polymorphisms were analyzed by using a multiplex polymerase chain reaction (PCR), and GSTP1 polymorphism was detected by real-time PCR assay. Results:GSTM1-null genotype was significantly associated with the development of AMD (p = 0.01, OR = 1.82, 95% CI = 1.14–2.91). Stratification by AMD subtypes revealed a significant relationship between GSTM1-null genotype and dry-type AMD (p = 0.02, OR = 1.98, 95% CI = 1.10–3.53). In a stepwise regression model, only GSTM1-null genotype was significantly associated with the development of AMD (p = 0.01, OR = 1.77, 95% CI = 1.11–2.81). Conclusions: Our findings suggest that genetic polymorphisms of GST may have a role in the development of AMD.

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Genetics of age-related macular degeneration

Abstract: First-degree relatives of patients with AMD tend to have a higher risk of AMD. Recognizing an inherent genetic risk of AMD in these patients will improve their management and potentially help prevent blindness.

Cited by 53 publications

References 159 publications

Genotypic Influences on Severity of Exudative Age-Related Macular Degeneration

Genotypic Influences on Severity of Exudative Age-Related Macular Degeneration

Roles of Three Common VEGF Polymorphisms in the Risk of Age-Related Macular Degeneration

Glutathione S-Transferase M1, <i>GSTT1</i> and <i>GSTP1</i> Genetic Polymorphisms and the Risk of Age-Related Macular Degeneration

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