10q26 Is Associated with Increased Risk of Age-Related Macular Degeneration in the Utah Population

Author(s):  
D. Joshua Cameron ◽  
Zhenglin Yang ◽  
Zhongzhong Tong ◽  
Yu Zhao ◽  
Alissa Praggastis ◽  
...  

2021 ◽  
pp. 112067212110026
Author(s):  
Pablo Gili ◽  
Leyre Lloreda Martín ◽  
José-Carlos Martín-Rodrigo ◽  
Naon Kim-Yeon ◽  
Laura Modamio-Gardeta ◽  
...  

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.







Author(s):  
Liv Tybjærg Nordestgaard ◽  
Anne Tybjærg-Hansen ◽  
Ruth Frikke-Schmidt ◽  
Børge Grønne Nordestgaard

Abstract Context To enable prevention and treatment of age-related macular degeneration(AMD), understanding risk factors for AMD is important. Objective We tested the hypotheses that elevated plasma apolipoprotein A1 and high-density lipoprotein(HDL) cholesterol, and low levels of low-density lipoprotein(LDL) cholesterol, are associated with increased risk of AMD. Design and Setting From the Danish general population, we studied 106,703 and 16,032 individuals in the Copenhagen General Population Study(CGPS) and the Copenhagen City Heart Study(CCHS) with median follow-up of respectively 9 and 32 years. Main Outcome Measures 1,787 AMD in CGPS and 206 in CCHS. Results Higher concentrations of plasma apolipoprotein A1 and HDL cholesterol, and lower concentrations of LDL cholesterol, were associated with higher risk of AMD in CGPS. After multifactorial adjustment, individuals in the highest versus lowest quartile of plasma apolipoprotein A1 and HDL cholesterol had hazard ratios for AMD of 1.40(95%CI:1.20-1.63) and 1.22(1.03-1.45). Corresponding hazard ratios for individuals in the lowest versus highest quartile of LDL cholesterol were 1.18(1.02-1.37). Per 100 mg/dL higher plasma apolipoprotein A1, 1 mmol/L(39 mg/dL) higher HDL, and 1 mmol/L(39mmol/L) lower LDL cholesterol, the hazard ratios for AMD were 1.53(1.31-1.80), 1.19(1.07-1.32), and 1.05(1.00-1.11), respectively, with similar results across strata of different risk factors. Higher concentrations of HDL cholesterol were also associated with higher risk of AMD in the CCHS. Conclusion Elevated plasma apolipoprotein A1 and HDL cholesterol, and lower LDL cholesterol, are associated with increased risk of age-related macular degeneration.



2020 ◽  
Vol 12 ◽  
pp. 251584142090392
Author(s):  
Constantinos D. Georgakopoulos ◽  
Olga E. Makri ◽  
Athina Pallikari ◽  
Konstantinos Kagkelaris ◽  
Panagiotis Plotas ◽  
...  

Purpose: Treatment with intravitreal injections of anti-vascular endothelial growth factor agents has been associated with an increased risk of arterial thromboembolic events. The aim of the present pilot study was to assess the effect of a single intravitreal injection of aflibercept on coagulation. Methods: Treatment-naïve patients with age-related macular degeneration ( n = 47), who were scheduled to undergo treatment with intravitreal injections of aflibercept, were enrolled. None of the included patients received any anticoagulation therapy or had a history of a recent arterial thromboembolic event. Blood samples were collected before the first intravitreal injection, and at 7 and 30 days after aflibercept administration. We evaluated coagulation parameters, such as platelet count and plasma fibrinogen and D-dimer levels; functional clotting parameters, such as prothrombin time, international normalized ratio, and activated partial thromboplastin time; and anticoagulant parameters, such as the levels of Proteins S and C. Results: The levels of all of the evaluated biomarkers were within the normal range at baseline and at both the time points throughout the study. No statistically significant changes were observed in any of the measured parameters at 1 week and 1 month after aflibercept administration. Conclusion: A single intravitreal injection of aflibercept in treatment-naïve patients with exudative age-related macular degeneration has no statistically significant effect on blood coagulation parameters for up to 1 month after aflibercept administration. Our results also provide an explorative statistical data, and further studies are required to evaluate any significant clinical effects of aflibercept on blood coagulation parameters. ClinicalTrials.gov ID: NCT03509623.



2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Jie Wang ◽  
Yangjing Xue ◽  
Saroj Thapa ◽  
Luping Wang ◽  
Jifei Tang ◽  
...  

Data on the association between age-related macular degeneration (AMD) and cardiovascular disease and mortality are conflicting. The purpose of this report is to conduct a systematic review to better understand the role of AMD as a risk factor for CVD events and mortality. We searched Medline (Ovid) and Embase (Ovid) for trials published from 1980 to 2015. We included 20 cohort studies that reported relative risks with 95% confidence intervals for the association of AMD and cardiovascular events and mortality, involving 29,964,334 participants. In a random-effects model, the adjusted RR (95% confidence interval [CI]) associated with AMD was 1.08 (1.00–1.117) for all-cause mortality (8 studies) and 1.18 (0.98–1.43) for cardiovascular disease mortality (5 studies). The pooled RR (95% CI) was 1.17 (0.94–1.45) for coronary heart disease (CHD; 3 studies) and 1.13 (0.93–1.36) for stroke (8 studies). Findings from this systematic review support that AMD is associated with increased risk of all-cause mortality. The evidence that AMD predicts incident CVD events or CVD mortality remains inclusive and warrants further study in the future.







2009 ◽  
Vol 48 (175) ◽  
Author(s):  
Suprada Pokhrel ◽  
O K Malla ◽  
C L Pradhananga ◽  
S N Joshi

Introduction: Age related macular degeneration is a disorder of the macula most often clinicallyapparent affecting central vision and is one of the leading causes of blindness in the populationabove 50 years. The aim of this study is to determine clinical profi le of AMD in Nepalese presentingto a Teaching Hospital in Kathmandu.Methods: It was a hospital-based cross-sectional study. The subjects included in the study were thosepresenting to the Ophthalmology department of Kathmandu Medical College Teaching Hospitalfrom July 2007- Dec 2007.The total number of individuals included in the study were 402 and totalnumber of eyes were 804.Results: AMD was observed in 5.2% out of 402 subjects of 40 years and above age group withprevalence increasing with age. The prevalence of AMD was 0.7% within 40-50 years of age-groupindividuals increasing to 2.6% in 51-60 years, 6.5% in 61-70 years and to 19.3% among subjectsabove 71 years. This study revealed that the prevalence of AMD in females was higher with femalepreponderance in ratio of 2.5:1. 52.5 % AMD subjects in our study had visual impairment with 6/24-6/60 vision and 15% had vision <3/60-PL. Our study revealed statistically signifi cant increased riskfor AMD with aging (p=0.00). Increased risk was observed in female gender and diabetics though theOdds ratio (OR) was statistically insignifi cant (p=>0.01).Conclusions: Prevalence of AMD in Nepalese presenting to Kathmandu Medical College TeachingHospital was 5% with female preponderance in ratio of 2.5:1. Aging showed statistically signifi cantincreased risk for AMD development in this study.Key Words: Age-related macular degeneration, blindness, Nepalese, prevalence



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