scholarly journals Association of genetic variants rs641153 (CFB), rs2230199 (C3), and rs1410996 (CFH) with age-related macular degeneration in a Brazilian population

2021 ◽  
pp. 153537022110245
Author(s):  
Jamil M Neto ◽  
Marina GM Viturino ◽  
Galina Ananina ◽  
Flávia F Bajano ◽  
Sueli M da S Costa ◽  
...  
Keyword(s):  
Protective Effect ◽  
Macular Degeneration ◽  
Genetic Variants ◽  
Brazilian Population ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Complement Factor ◽  
Age Related ◽  
Significant Protective Effect ◽  
Wet Amd

This study aimed to investigate the association among genetic variants of the complement pathway CFB R32Q (rs641153), C3 R102G (rs2230199), and CFH (rs1410996) with age-related macular degeneration (AMD) in a sample of the Brazilian population. In a case-control study, 484 AMD patients were classified according to the clinical age-related maculopathy grading system (CARMS) and compared to 479 unrelated controls. The genetic variants rs1410996 of complement H (CFH), rs641153 of complement factor B (CFB), and rs2230199 of complement 3 (C3) were evaluated through polymerase chain reaction (PCR) and direct sequencing. The associations between single nucleotide polymorphisms (SNPs) and AMD, adjusted by age, were assessed by using logistic regression models. A statistically significant association was observed between AMD risk and rs2230199 variant with an OR of 2.01 ( P  = 0.0002) for CG individuals compared to CC individuals. Regarding the comparison of advanced AMD versus the control group, the OR was 2.12 ( P = 0.0036) for GG versus AA genotypes for rs1410996 variant. Similarly, the OR for rs2230199 polymorphism was 2.3034 ( P  = 5.47e-05) when comparing CG individuals to CC carriers. In contrast, the rs641153 variant showed a significant protective effect against advanced AMD for GA versus GG genotype (OR = 0.4406; P  = 0.0019). When comparing wet AMD versus controls, a significant association was detected for rs1410996 variant (OR = 2.16; P  = 0.0039) comparing carriers of the homozygous GG versus AA genotype, as well as in the comparisons of GG (OR = 3.0713; P  = 0.0046) and CG genotypes (OR = 2.2249; P  = 0.0002) versus CC genotype for rs2230199 variant, respectively. The rs641153 variant granted a significant protective effect against wet AMD for GA versus GG genotypes (OR = 0.4601; P  = 0.0044). Our study confirmed the risk association between rs2230199 and rs1410996 variants and AMD, and the protective role against AMD for rs641153 variant.

scholarly journals Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration

2007 ◽  
Vol 16 (16) ◽  
pp. 1986-1992 ◽  
Author(s):  
K. L. Spencer ◽  
M. A. Hauser ◽  
L. M. Olson ◽  
S. Schmidt ◽  
W. K. Scott ◽  
...  
Keyword(s):  
Protective Effect ◽  
Macular Degeneration ◽  
Complement Component ◽  
Age Related Macular Degeneration ◽  
Complement Factor ◽  
Factor B ◽  
Complement Factor B ◽  
Age Related

Evaluation of APOE polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population

2021 ◽  
pp. 153537022098546
Author(s):  
Marina GM Viturino ◽  
Jamil M Neto ◽  
Flávia F Bajano ◽  
Sueli MS Costa ◽  
Alicia B Roque ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Statistical Significance ◽  
Brazilian Population ◽  
Age Related Macular Degeneration ◽  
Advanced Age ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Age Related

This study aimed to evaluate the role of APOE polymorphisms (rs429358 and rs7412) in the risk of age-related macular degeneration in a sample of the Southeastern Brazilian population. Seven hundred and five unrelated individuals were analyzed, 334 with age-related macular degeneration (case group), and 371 without the disease (control group). In the case group, patients were further stratified according to disease phenotypes, divided into dry and wet age-related macular degeneration, and non-advanced and advanced age-related macular degeneration. APOE polymorphisms (rs429358 and rs7412) were evaluated through polymerase chain reaction and direct sequencing. In the comparison of cases vs. controls, none of the associations reached statistical significance, considering the Bonferroni-adjusted P-value, although there was a suggestive protection for the E3/E4 genotype (OR = 0.626; P-value = 0.037) and E4 carriers (OR = 0.6515; P-value = 0.047). Statistically significant protection for both the E3/E4 genotype and E4 carriers was observed in the comparisons: advanced age-related macular degeneration vs. controls (OR = 0.3665, P-value = 0.491 × 10−3 and OR = 0.4031, P-value = 0.814 × 10−3, respectively), advanced age-related macular degeneration vs. non-advanced age-related macular degeneration (OR = 0.2529, P-value = 0.659 × 10−4 and OR = 0.2692, P-value = 0.631 × 10−4, respectively). In the comparison of wet age-related macular degeneration vs. control, protection was statistically significant only for E3/E4 (OR = 0.4052, P-value = 0.001). None of the comparisons demonstrated any significant association for E2 genotypes or E2 carriers in age-related macular degeneration risk in this study. Findings suggest a protective role of the E4 haplotype in the APOE gene in the risk for advanced and wet forms of age-related macular degeneration, in a sample of the Brazilian population. To our knowledge, this is the first Brazilian study to show the association between APOE polymorphisms and age-related macular degeneration.

scholarly journals The effects of age-related macular degeneration on quality of life in a Brazilian population

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Alicia Buffoni Roque ◽  
Géssica Fernandes da Silva Borges ◽  
Ricardo Yuji Abe ◽  
Osias Francisco de Souza ◽  
Maria Cecília Machado ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Macular Degeneration ◽  
Educational Level ◽  
Family Income ◽  
Brazilian Population ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Age Related ◽  
The Mean

Abstract Background To evaluate the impact of age-related macular degeneration (AMD) on the quality of life (QoL) in a Brazilian population using The National Eye Institute-Visual Function Questionnaire-25 (NEI-VFQ-25). Methods This observational study included 462 participants from the Departments of Ophthalmology of the University of Campinas and Conderg-Divinolândia. The NEI-VFQ-25 questionnaire and Rasch analysis were used to assess the vision-related quality of life (VRQoL). Patients with macular neovascularization were interviewed at enrollment and after three loading doses of intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment. Results One hundred thirty-three patients were excluded because they had another ophthalmic disease, for a total of 349 patients included in the study (177 in the AMD group, 172 in the control group; 56.4% were women; mean ± standard deviation age, 70.6 ± 9.5 years). Most NEI-VFQ-25 subscale scores were significantly lower in the AMD group compared with the control group. The Rasch-calibrated NEI-VFQ-25 median score in the visual-functioning component was 56.41 for the AMD group and 61.53 for the control group, a difference of ± 4.00 (P = 0.0001). Separate analyses of the sociodemographic and ocular characteristics showed that the NEI-VFQ-25 scores were affected mostly by family income, educational level, descent, diet (vegetables/fruits), physical activity, and visual acuity (VA). The longitudinal component assessed a different group of 48 patients with exudative disease treated with anti-VEGF drugs. The mean logarithm of the minimum angle of resolution change in VA in treated eyes was a 0.16 decrease (P = 0.01). The mean change in the optical coherence tomography macular thickness was a 36.74-μm decrease (P = 0.012) from baseline to 4 months. The mean NEI-VFQ-25 scores improved significantly from baseline to follow-up at 4 months in almost all subscales. Conclusions In a Brazilian community, patients with AMD had a worse VRQoL than controls. The AMD severity and bilaterality were associated with decreased NEI-VFQ-25 scores. Higher family income, educational level, descent, and lifestyle significantly improved several subscales of the NEI-VFQ-25 questionnaire. Treated patients with exudative AMD had improvements in the VA, macular thickness, and most NEI-VFQ-25 subscale scores.

scholarly journals THE HOMING TRIAL: A RETROSPECTIVE PILOT STUDY ON THE EFFICACY OF PERSONALIZED BIOIDENTICAL HORMONE, DIETARY SUPPLEMENT AND NUTRITION CARE PLANS FOR AGE-RELATED MACULAR DEGENERATION (AMD)

2021 ◽  
Vol 5 (4) ◽  
Author(s):  
George W. Rozakis ◽  
Brian A. Bakke
Keyword(s):  
Oxidative Stress ◽  
Gene Expression ◽  
Visual Acuity ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Care Plans ◽  
Age Related ◽  
Dry Amd ◽  
Wet Amd

The objective of the Hormones, Oxidative stress, Methylation, Inflammation and Gene expression (HOMING) trial was to assess the efficacy of personalized bio identical hormone, dietary supplement and nutritional care plans on dry and wet Age-related Macular Degeneration (AMD) outcomes.  We evaluated 220 Age-related Macular Degeneration (AMD) patients that followed a personalized clinical care plan for up to 9 months.   The care plans consisted of bio identical hormones, dietary supplements and nutrition recommendations with the objective to improve lab and clinical measurements linked to oxidative stress, inflammation and gene expression.  Serum concentrations of CRP, HbA1c and homocysteine responded favorably to the HOMING protocol with full program compliance. Sixty percent (42/70) of wet AMD patients reported improvement in visual acuity and/or a reduction in the frequency of anti-VEGF injections during the study period.  Forty eight percent (44/92) of dry AMD patients reported improvement in visual acuity during the study period.  Nine percent (4/45) patients reported improvement in visual acuity in the dry AMD control group and no (0/13) wet AMD patients in the control group reported improvement.  Six percent (4/70) of wet AMD patients reported that their vision declined and/or that their F frequency increased during the study period.  Five percent (4/92) of dry AMD patients reported that their vision was worse.  Keywords:  Bio identical Hormones, Oxidative stress, Methylation, Inflammation, Gene Expression, Nutrition and AMD.

scholarly journals Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 825 ◽  
Author(s):  
Shoshany ◽  
Weiner ◽  
Safir ◽  
Einan-Lifshitz ◽  
Pokroy ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Genetic Variants ◽  
Rare Variants ◽  
Phase 1 ◽  
Mutation Screening ◽  
Factor H ◽  
Age Related Macular Degeneration ◽  
Complement Factor ◽  
Age Related ◽  
Rare Genetic Variants

Purpose: To identify rare genetic variants in early age-related macular degeneration (AMD) utilizing whole-exome sequencing (WES). Methods: Eight non-related early-AMD families of different Jewish ethnicities were ascertained. Initial mutation screening (phase-1) included common complement factor-H (CFH) p.Y402H; and age related maculopathy susceptibility 2 (ARMS2) p.A69S; and rare variants complement factor-I (CFI) p.V412M; and hemicentin1 (HMCN1) c.4163delC identified previously in our population. Four families, whose initial screening for the aforementioned variants was negative, underwent WES (phase-2). Bioinformatics filtering was based on functionality (from a panel of 234 genes with proven or presumed association to AMD); predicted severity; and frequency (rare variants with minor allele frequency <1%). When applicable, further screening for specific rare variants was carried out on additional cases of similar ethnicities and phenotypes (phase-3). Results: Phase-1 identified three families carrying CFI p.V412M mutation. WES analysis detected probable disease-related variants in three out of the remaining families. These included: a family with a variant in PLEKHA1 gene p.S177N; a family with previously reported variant p.R1210C in CFH gene; and two families with the C3 p.R735W variant. Conclusions: Rare, high-penetrance variants have a profound contribution to early-AMD pathogenesis. Utilization of WES in genetic research of multifactorial diseases as AMD, allows a thorough comprehensive analysis with the identification of previously unreported rare variants.

scholarly journals A comparative analysis of the course of wet age-related macular degeneration in eyes with incipient cataract and in eyes after phacoemulsification

2014 ◽  
Vol 7 (4) ◽  
pp. 27-32
Author(s):  
Yuriy Sergeyevich Astakhov ◽  
Nikita Yur’yevich Dal’ ◽  
Natal’ya Viktorovna Chistyakova
Keyword(s):  
Visual Acuity ◽  
Macular Degeneration ◽  
Retinal Thickness ◽  
Treated Group ◽  
Age Related Macular Degeneration ◽  
Central Retinal Thickness ◽  
Control Group ◽  
Age Related ◽  
Significant Difference ◽  
Wet Amd

Many patients with wet age-related macular degeneration (AMD) also have a cataract in the same eye. Because there is a theoretical risk of progression of the degenerative processes in the macular area after surgical lens removal, this raises some ethical, clinical and economical questions for ophthalmologists. The purpose of the study was to compare the course of wet AMD in eyes with incipient cataract and the course in eyes after surgical cataract removal. Materials and methods: 135 eyes with wet AMD, 48 eyes - treated group - were subjects to phacoemulsification during the study, 87 eyes - control group - with incipient cataract without indications for surgery. Regular visits every 1.5 months during 2 years of follow-up with visual acuity testing, central retinal thickness analysis by optical coherence tomography (OCT). Anti-VEGF injections were performed according to a PRN regimen. Results: there was no statistically significant difference in visual acuity, central retinal thickness, intravitreal injection frequency between both groups during the study period. Conclusions: No influence of phacoemulsification on the wet AMD course was found.

scholarly journals A study on plasma homocysteine level in age-related macular degeneration

2013 ◽  
Vol 5 (2) ◽  
pp. 195-200 ◽  
Author(s):  
Sourav Ghosh ◽  
M Saha ◽  
D Das
Keyword(s):  
Macular Degeneration ◽  
Homocysteine Level ◽  
Plasma Homocysteine ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Plasma Homocysteine Level ◽  
Blood Samples ◽  
Age Related ◽  
Dry Amd ◽  
Wet Amd

Introduction: Age-related macular degeneration (AMD) related to adverse vascular changes is the most frequent cause of irreversible visual impairment in the elderly. Elevated plasma concentrations of serum homocysteine have been shown to increase the risk of vascular disease. Objective: To assess the relationship between plasma homocysteine level and age related macular degeneration. Materials and methods: A case control study was conducted in a tertiary eye care hospital with 32 diagnosed AMD patients. The patients were compared for plasma homocysteine levels with a control group of 32 patients without AMD. A 1.5 ml of fasting venous blood sample was obtained from each participant. Plasma homocysteine level was measured by high performance liquid chromatography. The main outcome measure was hyperhomocysteinemia, defined as a plasma homocysteine level above 15 μmol/l. Results: Hyperhomocysteinemia was found in 10 blood samples (83.3 %) of patients in the wet AMD group, in 16 (80 %) blood samples in the dry AMD group, and in 12 blood samples (37%) of controls. The mean ± SD homocysteine level in the AMD group was 16.86 ± 3.52 μmol/L, while in the non-AMD control group it was 14.53 ± 4.08 μmol/L. This difference was statistically significant (p-value = 0.0186). In the individual analysis, it was also found out that the homocysteine level differed significantly between cases and controls in only the wet variety of AMD. Conclusion: Hyperhomocysteinemia was significantly associated with the wet AMD variety but not with the dry AMD. Thus, homocysteine by oxidative stress and vascular dysfunction can be an important risk factor in the pathogenesis of AMD. Nepal J Ophthalmol 2013; 5(10): 195-200 DOI: http://dx.doi.org/10.3126/nepjoph.v5i2.8728

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