scholarly journals CYP4F2 (rs2108622) Gene Polymorphism Association with Age-Related Macular Degeneration

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Ruta Sakiene ◽  
Alvita Vilkeviciute ◽  
Loresa Kriauciuniene ◽  
Vilma Jurate Balciuniene ◽  
Dovile Buteikiene ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Macular Degeneration ◽  
Population Control ◽  
Polymerase Chain Reaction Method ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Age Related ◽  
Healthy Control ◽  
Population Control Group ◽  
Predominant Effect

Background. Age-related macular degeneration is the leading cause of blindness in elderly individuals where aetiology and pathophysiology of age-related macular degeneration are not absolutely clear.Purpose. To determine the frequency of the genotype of rs2108622 in patients with early and exudative age-related macular degeneration.Methods. The study enrolled 190 patients with early age-related macular degeneration, 181 patients with exudative age-related macular degeneration (eAMD), and a random sample of 210 subjects from the general population (control group). The genotyping of rs2108622 was carried out using the real-time polymerase chain reaction method.Results. The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the early AMD group, the eAMD group, and the control group. TheCYP4F2(1347C>T)T/Tgenotype was more frequent in males with eAMD compared to females (10.2% versus 0.8%;p=0.0052); alsoT/Tgenotype was less frequently present in eAMD females compared to healthy control females (0.8% versus 6.2%;p=0.027).Conclusion. Rs2108622 gene polymorphism had no predominant effect on the development of early AMD and eAMD. TheT/Tgenotype was more frequent in males with eAMD compared to females and less frequently present in eAMD females compared to healthy females.

scholarly journals Does Matrix Metalloproteinase-3 Polymorphism Play a Role in Age-Related Macular Degeneration in Patients With Myocardial Infarction?

Medicina ◽  
2012 ◽  
Vol 48 (8) ◽  
pp. 60 ◽  
Author(s):  
Rasa Liutkevičienė ◽  
Diana Žaliaduonytė-Pekšienė ◽  
Dalia Žaliūnienė ◽  
Olivija Gustienė ◽  
Vytautas Jašinskas ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Gene Polymorphism ◽  
Matrix Metalloproteinase ◽  
Macular Degeneration ◽  
Early Stage ◽  
Gene Promoter ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Matrix Metalloproteinase 3 ◽  
Age Related

Objective. The aim of our study was to determine if the genotype of the matrix metalloproteinase- 3 (MMP-3) gene might carry the risk of age-related macular degeneration (ARMD) in patients with myocardial infarction. Material and Methods. A total of 499 patients with an acute myocardial infarction or with a history of myocardial infarction were enrolled into the study. They were subdivided into 2 groups: 273 patients with ARMD and 226 patients without ARMD. The control group comprised 560 persons from a random sample of the Lithuanian population. DNA was analyzed using real-time polymerase chain reaction to genotype polymorphism 5A/6A at a position –1171 of the MMP-3 gene promoter. Results. Of the 499 patients with myocardial infarction, 47% had early-stage ARMD. The patients with ARMD were older than the patients in the group without ARMD (62.1±10.8 vs. 59.6±11.1, P<0.01). The analysis of MMP-3 gene polymorphism did not reveal any differences in the distribution of 5A/5A, 5A/6A, and 6A/6A genotypes between the ARMD group, non-ARMD group, and the control group (24.2%, 52.5%, and 23.3% in the ARMD group; 28.7%, 51.9%, and 19.4% in non-ARMD group; and 25.7%, 49.3% and 25.0%, in the control group, respectively). Conclusions. MMP-3 gene polymorphism had no predominant effect on the development of ARMD in patients with myocardial infarction.

Apelin-13: A Promising Biomarker for Age-Related Macular Degeneration?

2020 ◽  
Author(s):  
Esra Vural ◽  
Leyla Hazar ◽  
Cigdem Karakukçu ◽  
M. Erkam Arslan ◽  
M. Raşit Sirem ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Foveal Thickness ◽  
Central Foveal Thickness ◽  
Age Related ◽  
Treatment Naïve ◽  
Healthy Control ◽  
Group 2

Purpose: To investigate the value of serum apelin-13 levels in age-related macular degeneration patients. Methods: Patients with dry-type AMD, treatment-naive neovascular-type AMD and the healthy control group were included in this study. Patients diagnoses were confirmed with detailed fundus examination, optical cohorence tomography and fundus flourescein angiography findings. Central foveal thickness and subfoveal choroidal thickness were evaluated. Both serum apelin-13 and vascular endothelial growth factor (VEGF) levels were measured by competitive-enzyme-linked immunosorbent assay (ELISA) principle. Results: A total of 84 patients, including 24 patients in the dry-type AMD group (group 1), 27 patients in the neovascular-type AMD (group 2) group and 33 in the control group (group 3) were included in the study. Mean BCVA were 76±4,5, 48,4±16,3, 83,4±3,09 ETDRS letters in groups 1, 2 and 3, respectively. Values of serum VEGF were 44.11±26.14 pg/mL, 56.53±53.77 pg/mL and 61.47±41.62 pg/mL in groups 1, 2 and 3, respectively (p=0.553, p=0.286, p=0.896, respectively). Values of serum apelin-13 were 586.47±167.56 pg/mL, 622.18±324.52 pg/mL, 379. 31±171.96 pg/mL in groups 1, 2 and 3, respectively (p=0.847, p=0.04, p≤0.001, respectively). There was a negative correlation between the value of serum apelin and visual acuity and choroid thickness. Conclusion: Serum apelin-13 were higher in both dry-type AMD patients and neovascular AMD patients compared to the control group. Further studies are needed.

scholarly journals ABCA1 rs1883025 and CYP4F2 rs2108622 Gene Polymorphism Association with Age-Related Macular Degeneration and Anti-VEGF Treatment

Medicina ◽  
2021 ◽  
Vol 57 (9) ◽  
pp. 974
Author(s):  
Ruta Mockute ◽  
Alvita Vilkeviciute ◽  
Vilma Jurate Balciuniene ◽  
Reda Zemaitiene ◽  
Rasa Liutkeviciene
Keyword(s):  
Gene Polymorphism ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Rt Pcr ◽  
Corrected Visual Acuity ◽  
Anti Vegf ◽  
Age Related ◽  
Pcr Method ◽  
Genetic And Environmental Factors

Background and Objectives: The age-related macular degeneration (AMD) pathophysiology is multifactorial, as it consists of interactions between aging, genetic, and environmental factors. We aimed to determine a relationship between AMD and the genes controlling lipid metabolism, and to assess its association with treatment results. The purpose was to find the ABCA1 rs1883025 and CYP4F2 rs2108622 gene polymorphisms in patients with exudative AMD (eAMD) treated with anti-VEGF. Materials and Methods: The study enroled 104 patients with eAMD and 201 healthy persons in a control group. The genotyping of rs1883025 and rs2108622 was performed using the RT-PCR method. The best-corrected visual acuity (BCVA) and central retinal thickness (CRT) were measured before anti-VEGF therapy, then at three and six months during the therapy, using optical coherence tomography (OCT). The patients were grouped to responders and non-responders according to the changes in BCVA and CRT. Results: The T allele at rs1883025 was more frequent in non-responder eAMD patients compared to responder eAMD patients (41.7% vs. 21.1%; p = 0.009). The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the eAMD group and the control group (56.35%, 39.78%, and 3.87% in the eAMD group and 53.33%, 39.05% and 7.62% in the control group, respectively, p = 0.286). The comparison of CRT and BCVA between the rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes (p = 0.030). Conclusion: The rs1883025 T allele was found to play a more significant role in non-responder eAMD patients compared to responder eAMD patients. The rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes.

scholarly journals Assesment Of Protein Profile In Vitreus Samples Of Patients With Age-Related Macular Degeneration By Proteomic Approaches

2021 ◽  
Author(s):  
Hamza Köse ◽  
Berna Özkan ◽  
Aylin Kanlı ◽  
Gürler Akpınar ◽  
Murat Kasap ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Protein Profile ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Two Dimensional Gel Electrophoresis ◽  
Biological Regulation ◽  
Immunoglobulin Kappa ◽  
Age Related ◽  
Healthy Control ◽  
A Chain

Abstract Background: To investigate the protein content in patients with age-related macular degeneration (AMD) with the aim of revealing the pathogenesis of the disease. Methods: Two groups were formed: 13 patients as the AMD group and 11 patients as the healthy control group. Vitreous samples were taken from both groups under sterile conditions and sent to the proteomics laboratory for proteomics analysis. In this study, we evaluated the proteome of vitreous samples of AMD and control groups using two-dimensional gel electrophoresis (2DE) coupled with MALDI-TOF/TOF.Results: We detected 11 proteins differentially regulated in the vitreous of AMD patients relative to healthy controls. The only protein that was up-regulated was Apolipoprotein E. We observed that Alpha 1-acid glycoprotein (AAG), Leucine-rich alpha-2-glycoprotein (LRG-1), Alpha-2-HS-glycoprotein, Haptoglobin, Alpha-Crystalline A Chain, Alpha- Crystalline B Chain, Immunoglobulin kappa constant, Beta-crystallin B2, Beta-crystallin A3, Beta-crystallin S levels were significantly decreased in patients with AMD. Conclusion: The detected proteins are related to biological regulation, retinal protection, and regulation of inflammation and angiogenesis processes. We believe that investigating these proteins will help to reveal the pathological mechanisms of AMD.

scholarly journals Association of age-related macular degeneration on fracture risks among osteoporosis population: a nationwide population-based cohort study

BMJ Open ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. e037028
Author(s):  
Chi Chin Sun ◽  
Ting-Shuo Huang ◽  
Tsai-Sheng Fu ◽  
Chia-Yi Lee ◽  
Bing-Yu Chen ◽  
...  
Keyword(s):  
Visual Impairment ◽  
Macular Degeneration ◽  
Hip Fractures ◽  
Multivariable Analysis ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Research Database ◽  
Risk Of Death ◽  
Age Related ◽  
Ulnar Fracture

ObjectivesVisual impairment is an important risk factor for fracture in the elderly population. Age-related macular degeneration (AMD) is the leading cause of irreversible visual impairment in elderly people. This study was conducted to explore the relationship between AMD and incident fractures in patients with osteoporosis (OS).DesignRetrospective analysis of Taiwan’s National Health Insurance Research Database (NHIRD).SettingA multicenter study conducted in Taiwan.Participants and controlsThe current study used the NHIRD in Taiwan between 1996 and 2011. A total of 13 584 and 54 336 patients with OS were enrolled in the AMD group and the non-AMD group, respectively.InterventionPatients with OS were included from the Taiwan’s NHIRD after exclusion, and each patient with AMD was matched for age, sex and comorbidities to four patients with non-AMD OS, who served as the control group. A Cox proportional hazard model was used for the multivariable analysis.Primary outcome measuresTransitions for OS to spine fracture, OS to hip fracture, OS to humero-radio-ulnar fracture and OS to death.ResultsThe risks of spine and hip fractures were significantly higher in the AMD group (HR=1.09, 95% CI=1.04 to 1.15, p<0.001; HR=1.18; 95% CI=1.08 to 1.30, p=0.001, respectively) than in the non-AMD group. The incidence of humero-radio-ulnar fracture between AMD and non-AMD individuals was similar (HR=0.98; 95% CI=0.90 to 1.06; p=0.599). However, the risk of death was higher in patients with OS with older age, male sex and all types of comorbidity (p<0.05), except for hyperthyroidism (p=0.200).ConclusionPatients with OS with AMD had a greater risk of spine and hip fractures than did patients without AMD.

C3 gene polymorphism R102G in a Greek population with age-related macular degeneration

2010 ◽  
Vol 88 ◽  
pp. 0-0
Author(s):  
N PHARMAKAKIS ◽  
A DELIS ◽  
D MARIOLIS ◽  
I HAVAS ◽  
I ZARKADIS
Keyword(s):  
Gene Polymorphism ◽  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Greek Population ◽  
Age Related ◽  
C3 Gene

scholarly journals Long-Term Outcomes of Rheohaemapheresis in the Treatment of Dry Form of Age-Related Macular Degeneration

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Jan Studnička ◽  
Eva Rencová ◽  
Milan Bláha ◽  
Pavel Rozsíval ◽  
Miriam Lánská ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Treated Patient ◽  
Pigment Epithelium ◽  
Age Related Macular Degeneration ◽  
Rheological Parameters ◽  
Control Group ◽  
Long Term Effects ◽  
Age Related

Purpose. Determining long-term effects of rheohaemapheresis on the dry form of age-related macular degeneration.Methods. This study evaluates 19 patients, average age of 67.6 years, treated with rheohaemapheresis and 18 patients, average age of 72.8 years, comprising the control group. Minimum follow up period was 3.5 years. Each treated patient received a series of 8 sessions of rheohaemapheresis of 1.5 plasma volumes within 10 weeks. We measured the drusenoid pigment epithelium detachment (DPED), best-corrected visual acuity (BCVA), electroretinography (ERG), and rheological parameters.Results. In the treatment group, the baseline BCVA was 0.74 (0.36–1.0) 95% CI and BCVA after 3.5 years was 0.79 (0.41–1.0) 95% CI (P=0.726). In the control group, the baseline BCVA was 0.71 (0.15–1.0) 95% CI and BCVA after 3.5 years decreased to 0.7 (0.32–0.87) 95% CI (P=0.031). Baseline DPED was 6.78 ± 3.79 mm2; after 3.5 years, it decreased to 4.13 ± 3.84 mm2(P<0.001). In the control group, the baseline DPED was 4.09 ± 3.48 mm2; after 3.5 years, it increased to 6.69 ± 4.2 mm2(P=0.001). We noted increasing levels of positive wave peaking at 50 milliseconds (P50) after treatment (P=0.022) and a stable amplitude of photopic responses of treated patients.Conclusion. Over the long term, rheohaemapheresis reduced the DPED, improved the function of photoreceptors, and prevented the decline of BCVA.

scholarly journals Preservation of the Photoreceptor Inner/Outer Segment Junction in Dry Age-Related Macular Degeneration Treated by Rheohemapheresis

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Eva Rencová ◽  
Milan Bláha ◽  
Jan Studnička ◽  
Vladimír Bláha ◽  
Miriam Lánská ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Macular Degeneration ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Treated Group ◽  
Plasma Viscosity ◽  
Age Related Macular Degeneration ◽  
Control Group ◽  
Macular Function ◽  
Age Related

Aim. To evaluate the long-term effect of rheohemapheresis (RHF) treatment of age-related macular degeneration (AMD) on photoreceptor IS/OS junction status.Methods. In our study, we followed 24 patients with dry AMD and drusenoid retinal pigment epithelium detachment (DPED) for a period of more than 2.5 years. Twelve patients (22 eyes) were treated by RHF and 12 controls (18 eyes) were randomized. The treated group underwent 8 RHF standardized procedures. We evaluated best-corrected visual acuity, IS/OS junction status (SD OCT), and macular function (multifocal electroretinography) at baseline and at 2.5-year follow-up.Results. RHF caused a decrease of whole-blood viscosity/plasma viscosity at about 15/12%. BCVA of treated patients increased insignificantlyP=0.187from median 74.0 letters (56.2 to 81.3 letters) to median 79.0 letters (57.3 to 83.4 letters), but it decreased significantly from 74.0 letters (25.2 to 82.6 letters) to 72.5 letters (23.4 to 83.1 letters) in the control groupP=0.041. The mfERG responses in the region of eccentricity between 1.8° and 7° were significantly higher in treated patientsP=0.04.Conclusions. RHF contributed to sparing of photoreceptor IS/OS junction integrity in the fovea, which is assumed to be a predictive factor for preservation of visual acuity.

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