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1.
Int Ophthalmol ; 44(1): 253, 2024 Jun 22.
Article in English | MEDLINE | ID: mdl-38907787

ABSTRACT

PURPOSE: To identify risk factors influencing visual outcomes in patients with pathological myopia-associated choroidal neovascularization (PM-CNV) following intravitreal injections of conbercept. METHODS: A total of 86 eyes from 86 patients received intravitreal conbercept in a 1 + PRN regimen. After the initial injection, patients were followed for 12 months. They were categorized into two groups based on their 12-month visual acuity change: those who achieved greater than a one-line improvement in BCVA (improved group; n = 65) and those who experienced a one-line or lesser improvement or a decrease in BCVA (non-improved group; n = 21). RESULTS: Over the 12-month period, the mean BCVA in the improved group significantly improved from 0.82 to 0.41 LogMAR. In the non-improved group, BCVA changed from 1.24 to 1.09 LogMAR. Similarly, the mean CRT decreased from 426.21 µm at baseline to 251.56 µm at 12 months in the improved group, and from 452.47 to 382.45 µm in the non-improved group. Multivariable logistic regression analyses revealed that older age (OR 1.287; 95% CI 1.019-1.625; P = 0.034), poorer baseline BCVA (OR 6.422; 95% CI 1.625-25.384; P = 0.008), the presence of subfoveal CNV (OR 4.817; 95% CI 1.242-18.681; P = 0.023), and organized interlacing patterns of CNV morphology (OR 5.593; 95% CI 1.397-22.392; P = 0.015) emerged as independent risk factors correlated with worsened visual prognosis following intravitreal conbercept injections. CONCLUSIONS: Conbercept demonstrates significant efficacy and safety in treating PM-CNV. Key factors influencing visual recovery post-treatment include older age, poorer baseline BCVA, the presence of subfoveal CNV, and organized interlacing patterns of CNV morphology.


Subject(s)
Choroidal Neovascularization , Intravitreal Injections , Myopia, Degenerative , Recombinant Fusion Proteins , Tomography, Optical Coherence , Visual Acuity , Humans , Choroidal Neovascularization/drug therapy , Choroidal Neovascularization/etiology , Choroidal Neovascularization/diagnosis , Choroidal Neovascularization/physiopathology , Male , Myopia, Degenerative/complications , Myopia, Degenerative/diagnosis , Myopia, Degenerative/physiopathology , Female , Recombinant Fusion Proteins/administration & dosage , Middle Aged , Prognosis , Tomography, Optical Coherence/methods , Fluorescein Angiography/methods , Retrospective Studies , Follow-Up Studies , Adult , Aged , Treatment Outcome , Angiogenesis Inhibitors/administration & dosage , Fundus Oculi
2.
Front Med (Lausanne) ; 10: 1107064, 2023.
Article in English | MEDLINE | ID: mdl-36993806

ABSTRACT

Aims: To investigate the correlation between the retinal microvasculature using optical coherence tomography angiography (OCTA) and systemic factors in type 2 diabetes mellitus (T2DM) patients. Methods: This cross-sectional study obtained OCTA data from patients with T2DM administered at hospital and referred to ophthalmic services. Patient data about demographics, comorbid conditions, and blood biomarkers were extracted from electronic medical records. Data from OCTA scans obtained by CIRRUS HD-OCT Model 5,000 were obtained. Vessel density (VD) and perfusion density (PD) within the superficial capillary plexus, and foveal avascular zone (FAZ) area were automatically segmented. These parameters were tested for their correlations with systemic factors by univariate and multivariable linear regression analyses. Results: A total of 144 T2DM patients (236 eyes) were available for analysis, with mean age of 53.6 (SD = 10.34) and 56.9% were male. Chronic kidney disease, cardiovascular disease, increased serum creatinine (Scr), red blood cell count (RBC), platelets (PLT), apolipoprotein B (APOB), and decreased urine albumin to creatinine ratio (UACR) were significantly associated with lower VD and PD (all p < 0.013). UACR and triglyceride (TRIG) were significantly correlated with FAZ area (all p < 0.017). In multivariate analyses, PLT, eGFR, and APOB were independent risk factors for retinal rarefaction, and UACR was a significant predictor of FAZ area. Conclusion: We found several systemic risk factors, such as PLT, renal function and lipid profiles were associated with PD, VD, and FAZ area among Chinese T2DM patients.

3.
Biochem Biophys Res Commun ; 630: 92-100, 2022 11 19.
Article in English | MEDLINE | ID: mdl-36152350

ABSTRACT

PURPOSE: We aim to investigate the potential role and underlying mechanisms of linc00174 on pyroptosis in the pathogenesis of DR. METHODS: Expression patterns of linc00174, miR-26a-5p and PTEN in human retinal microvascular endothelial cells (hRMECs) were detected by quantitative real-time PCR (qRT-PCR) and Western blot, respectively. Biological functions of linc00174 on cell proliferation and pyroptosis were evaluated by CCK-8, flow cytometry, caspase-1 activity assays, respectively. Luciferase reporter assay was employed to verify the interaction between miR-26a-5p and linc00174/PTEN. Streptozotocin (STZ)-induced DR in mice was further constructed to verify the potential role of linc00174 in vivo. Hematoxylin and eosin (H&E) and immunohistochemical staining were performed to assess the pathological changes and caspase-1 expression in retinal tissues. RESULTS: Up-regulated linc00174 and PTEN and down-regulated miR-26a-5p were uncovered in hRMECs treated with high glucose (HG). Mechanistically, linc00174 served as a sponge of miR-26a-5p to facilitate PTEN expression. Functionally, knockdown of linc00174 inhibited HG-induced pyroptosis of hRMECs via targeting miR-26a-5p. Moreover, linc00174/miR-26a-5p axis participated in HG-induced pyroptosis via PTEN/Akt signaling cascade. Further, silencing of linc00174 attenuated pyroptosis via regulating miR-26a-5p/PETN axis in DR mice. CONCLUSIONS: Collectively, our study reveals that linc10074 deteriorates the pathogenesis of DR via miR-26a-5p/PTEN/Akt signalling cascade, which may shed light on the discovery of potential therapeutic agents for DR treatment.


Subject(s)
Diabetes Mellitus , Diabetic Retinopathy , MicroRNAs , Animals , Caspases/metabolism , Cell Proliferation , Diabetes Mellitus/metabolism , Diabetic Retinopathy/metabolism , Endothelial Cells/metabolism , Eosine Yellowish-(YS)/metabolism , Glucose/metabolism , Hematoxylin/metabolism , Humans , Mice , MicroRNAs/metabolism , PTEN Phosphohydrolase/genetics , PTEN Phosphohydrolase/metabolism , Proto-Oncogene Proteins c-akt/metabolism , Pyroptosis , Sincalide/metabolism , Streptozocin
4.
Can J Physiol Pharmacol ; 99(11): 1175-1183, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34081870

ABSTRACT

Diabetic retinopathy (DR) has been regarded as a sight-threatening vascular complication of diabetes mellitus. Accumulating evidence has identified the involvement of long non-coding RNAs (lncRNAs) in DR pathogenesis. We aim to investigate the role and underlying mechanism of linc00174 in the DR process. Samples of human vitreous humour from proliferative DR and non-diabetic individuals were collected to examine the levels of linc00174. Human retinal microvascular endothelial cells (HRMECs) exposed with high glucose (HG) were employed to simulate the pathological statues of DR. Short hairpin RNA specifically targeting linc00174 was applied. CCK-8, transwell, and matrigel tube formation were performed to evaluate cell proliferation, migration, and angiogenesis. Bioinformatics analysis and luciferase reporter assay were conducted to verify the linc00174/miR-150-5p/vascular endothelial growth factor A (VEGFA) regulatory network. Western blotting was employed to determine the expression of VEGFA. Linc00174 was significantly elevated in patients with DR, as well as HG-stimulated HRMECs, of which knockdown repressed HG-induced proliferation, migration, and angiogenesis. miR-150-5p was identified as a downstream effector to be involved in linc00174-mediated protective effects. miR-150-5p directly bound to the 3' untranslated region of VEGFA. The linc00174/miR-150-5p/VEGFA axis was confirmed in retinal vascular dysfunction. The linc00174 deteriorates diabetic retinal microangiopathy via regulating miR-150-5p/VEGFA pathway, indicating a novel therapeutic target for DR treatment.


Subject(s)
Diabetic Retinopathy/genetics , Diabetic Retinopathy/pathology , Gene Expression Regulation, Developmental/genetics , MicroRNAs/metabolism , MicroRNAs/physiology , Neovascularization, Pathologic/genetics , Neovascularization, Pathologic/pathology , RNA, Long Noncoding/metabolism , RNA, Long Noncoding/physiology , Vascular Endothelial Growth Factor A/metabolism , Vascular Endothelial Growth Factor A/physiology , 3' Untranslated Regions , Aged , Cell Movement/genetics , Cell Proliferation/genetics , Cells, Cultured , Diabetic Retinopathy/therapy , Female , Humans , Male , Middle Aged , Molecular Targeted Therapy
5.
Exp Ther Med ; 17(3): 1563-1568, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30783422

ABSTRACT

The aim of this study was to evaluate the clinical efficacy of an intravitreal injection of ranibizumab combined with argon ion laser photocoagulation therapy in the treatment of different degrees of central retinal vein occlusion (CRVO). A total of 112 CRVO patients including 25 cases of trunk occlusion, 50 cases of branch occlusion and 37 cases of hemiretinal vein-occlusion were enrolled in this study. Patients were treated with an intravitreal injection of 0.5 mg ranibizumab, followed by argon ion laser photocoagulation therapy after 7 days. Patients were followed up for 6 months and the best corrected visual acuity (BCVA), central retinal thickness (CRT), macular edema, and surgical complications were compared. Compared with the control treated with 0.5 mg ranibizumab, the BCVA and macular edema improved while CRT was significantly reduced in all groups treated with 0.5 mg ranibizumab combined with the argon ion laser. Furthermore, no obvious complications were observed in these groups and the effects of ranibizumab combined with argon ion laser photocoagulation on branch occlusion group were the best. Intravitreal injection of ranibizumab combined with argon ion laser photocoagulation therapy has better safety and effectiveness in the treatment of different degrees of CRVO. The trial registration number is 2015-318 and date of registration is 12/10/2015.

6.
Ophthalmic Genet ; 37(4): 394-399, 2016 12.
Article in English | MEDLINE | ID: mdl-26914548

ABSTRACT

PURPOSE: To investigate whether common genetic variants in the endothelial nitric oxide synthase gene (eNOS) are associated with neovascular age-related macular degeneration (nAMD) and polypoidal choroidalvasculopathy (PCV) in a Chinese Han population. METHODS: DNA samples were obtained from 157 nAMD patients, 250 PCV patients and 204 healthy control subjects. Tag single nucleotide polymorphisms (SNPs) across the extended eNOS region were selected using data derived from the HapMap project. Genotyping of each tag SNP was performed by Multiplex SNaPshot system and direct DNA sequencing techniques. Genotypes and allele frequencies were evaluated with PLINK software for each group. RESULTS: Seven SNPs for eNOS, rs1799983, rs1800783, rs3918186, rs3800787, rs3918188, rs7830, and rs3918227, were chosen as tag SNPs. Among these tag SNPs, rs1800783, rs3918186, rs3918188, and rs3918227 were not associated with nAMD or PCV. Rs1799983, rs3800787, and rs7830 was significantly associated with nAMD (p = 0.0192, 0.0170, and 0.0164, respectively), but not associated with PCV (p = 0.4852, 0.4568, and 0.4014, respectively). The discovered associations were no longer significant after Bonferroni correction. CONCLUSIONS: We found no sufficient evidence to support the role of any common eNOS variants in the susceptibility to nAMD or PCV in a Chinese Han population.


Subject(s)
Asian People/genetics , Choroidal Neovascularization/genetics , Nitric Oxide Synthase Type III/genetics , Polymorphism, Single Nucleotide , Polyps/genetics , Wet Macular Degeneration/genetics , Aged , Case-Control Studies , China/epidemiology , Choroidal Neovascularization/diagnosis , Female , Gene Frequency , Genetic Predisposition to Disease/genetics , Genotyping Techniques , Humans , Male , Middle Aged , Polyps/diagnosis , Wet Macular Degeneration/diagnosis
7.
Ocul Immunol Inflamm ; 24(3): 261-7, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26171640

ABSTRACT

PURPOSE: To describe demographic features and clinical and imaging characteristics of inflammatory choroidal neovascularization (CNV) in a Chinese population. METHODS: A retrospective case review of patients with CNV secondary to uveitis from 2002 to 2013. RESULTS: A total of 125 patients (150 eyes, 166 CNVs; bifocal CNVs in 16 eyes), 64% of whom were women, were reviewed. The mean age was 35.86 years. The proportions of patients with punctate inner choroidopathy (PIC), multifocal choroiditis (MFC), and Vogt-Koyanagi-Harada (VKH) were 50.4, 22.4, and 8%. All of the cases were classic CNV in fluorocein angiography and type 2 CNV in OCT. The proportion of subfoveal lesions in active CNV (30.09%) was less than that in inactive CNV (60.38%). CONCLUSIONS: PIC, MFC, and VKH were the three primary specific types of uveitis with inflammatory CNV in this study. Inflammatory CNV tended to break though the retinal pigment epithelium and beneath the neurosensory retina. Moreover, inflammatory CNV was usually nonsubfoveal when it occurred.


Subject(s)
Asian People/ethnology , Choroidal Neovascularization/diagnosis , Choroiditis/diagnosis , Uveomeningoencephalitic Syndrome/diagnosis , Adolescent , Adult , Aged , China/epidemiology , Choroidal Neovascularization/ethnology , Choroidal Neovascularization/etiology , Choroiditis/complications , Choroiditis/ethnology , Coloring Agents/administration & dosage , Female , Fluorescein Angiography , Humans , Indocyanine Green/administration & dosage , Male , Middle Aged , Retrospective Studies , Uveitis/complications , Uveitis/diagnosis , Uveitis/ethnology , Uveomeningoencephalitic Syndrome/complications , Uveomeningoencephalitic Syndrome/ethnology , Young Adult
8.
Acta Ophthalmol ; 93(7): e550-5, 2015 Nov.
Article in English | MEDLINE | ID: mdl-25588897

ABSTRACT

PURPOSE: To measure the macular pigment optical density (MPOD) values in a healthy Chinese population using the one-wavelength reflectometry method and to investigate the relationships of MPOD with age, sex, body mass index (BMI), smoking and lens opacities. METHODS: A total of 441 healthy participants, aged 3-81 years old (242 male and 199 female subjects), were enrolled in this study. Demographic and lifestyle data were recorded based on physical examinations and questionnaires. Lens opacities were measured according to the Lens Opacities Classification System III (LOCS III). MPOD values were measured at 7° of eccentricity, using the one-wavelength reflectometry method (Visucam 200; Carl Zeiss Meditec). MPOD values were reported in parameters including 'max' and 'mean' optical density (OD). The original MPOD values without automated correction were used for analysis. RESULTS: The average values were 0.303 ± 0.097 d.u. (initials of density units) for the max OD and 0.109 ± 0.031 d.u. for the mean OD. A significant inverse relationship was found between age and MPOD (for max OD, ß = -0.716, p < 0.001; for mean OD, ß = -0.669, p < 0.001). Participants with no lens opacities had higher MPOD values than those with moderate lens opacities (p < 0.001). The MPOD values were not associated with sex, BMI or smoking status. CONCLUSION: MPOD within 7° of eccentricity, as measured by one-wavelength reflectometry, was found to decrease with increasing age in a healthy Chinese population, and lens opacities had an impact on these measurements. These results provide a reference value for future studies in the Chinese population.


Subject(s)
Aging/physiology , Asian People , Macular Pigment/metabolism , Retina/metabolism , Adolescent , Adult , Aged , Aged, 80 and over , Body Mass Index , Cataract/classification , Child , Child, Preschool , China/epidemiology , Cross-Sectional Studies , Densitometry , Female , Healthy Volunteers , Humans , Lutein/metabolism , Male , Middle Aged , Surveys and Questionnaires , Zeaxanthins/metabolism
9.
Ophthalmic Genet ; 36(3): 218-23, 2015.
Article in English | MEDLINE | ID: mdl-24303777

ABSTRACT

PURPOSE: To investigate whether three previously identified variants for age-related macular degeneration (AMD), the single nucleotide polymorphism (SNP) variants of or near the vascular endothelial growth factor A gene (VEGFA), were associated with neovascular AMD or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort. METHODS: This was a case-control study comprising 251 PCV patients, 157 neovascular AMD patients, and 204 control participants in a Han Chinese population. The rs833069, rs943080 and rs4711751 SNP were genotyped using the Multiplex SNaPshot system. Genotypes and allele frequencies of patients and controls were evaluated for the SNPs using PLINK software. RESULTS: None of the allelic or genotypic effects of these three variants was significantly associated with PCV, neovascular AMD or combined both patient categories. CONCLUSIONS: No association was found to support the role for the rs833069, rs943080 and rs4711751 variants of or near VEGFA gene in susceptibility to either PCV or neovascular AMD in Han Chinese population. Further replication is necessary to validate these results.


Subject(s)
Choroidal Neovascularization/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide , Polyps/genetics , Vascular Endothelial Growth Factor A/genetics , Wet Macular Degeneration/genetics , Adult , Aged , Aged, 80 and over , Asian People/genetics , Case-Control Studies , China/epidemiology , DNA Primers/chemistry , Female , Gene Frequency , Genotyping Techniques , Humans , Male , Middle Aged , Multiplex Polymerase Chain Reaction
10.
BMC Ophthalmol ; 14: 140, 2014 Nov 22.
Article in English | MEDLINE | ID: mdl-25416513

ABSTRACT

BACKGROUND: Growth differentiation factor 6 (GDF6) has been reported to be a novel disease gene for age-related macular degeneration (AMD) in Caucasians. This study aimed to investigate whether rs6982567 was associated with neovascular AMD (nAMD) or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort. METHODS: A total of 612 participants (251 PCV patients, 157 nAMD patients and 204 controls) were included in this study. The SNaPshot system was used to genotype the rs6982567. PLINK software was used to evaluate the genotypes and allele frequencies of patients and controls. RESULTS: The allele frequencies of rs6982567 were not significantly associated with nAMD, PCV or PCV and nAMD combined. Subjects with the TT genotype had a 2.42-fold greater risk of PCV (95% confidence interval, 1.07-5.43, p = 0.0290) than subjects with CC genotype. A recessive model of rs6982567 was statistically significantly associated with PCV (odds ratio, 2.29; 95% confidence interval, 1.04-5.05; p = 0.0351). However, the association did not withstand stringent Bonferroni correction. There were no significant differences in genotype distributions or models in nAMD. CONCLUSIONS: There was a possible weak association between the rs6982567 near GDF6 and PCV in this replication study with an independent Han Chinese cohort. A complete survey of the GDF6 locus with a larger sample size is needed in future studies.


Subject(s)
Asian People/genetics , Choroidal Neovascularization/genetics , Growth Differentiation Factor 6/genetics , Polymorphism, Single Nucleotide , Polyps/genetics , Wet Macular Degeneration/genetics , Adult , Aged , Aged, 80 and over , China , Choroidal Neovascularization/diagnosis , Cohort Studies , Female , Fluorescein Angiography , Gene Frequency , Genotype , Genotyping Techniques , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polyps/diagnosis , Wet Macular Degeneration/diagnosis
11.
Ophthalmic Genet ; 35(4): 235-40, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25162123

ABSTRACT

BACKGROUND: Recently, one of our studies has revealed that the serum matrix metalloproteinase 9 (MMP9) level is elevated in polypoidal choroidal vasculopathy (PCV) but not in age-related macular degeneration (AMD). Previous studies have demonstrated that abnormal extracellular matrix (ECM) metabolism plays an important role in the pathogenesis of AMD and PCV. MMP9 is an important regulating enzyme in ECM metabolism, and the MMP9 gene may be a candidate gene for the susceptibility of PCV and AMD. In this study, we aimed to investigate whether the MMP9 gene polymorphism is associated with PCV and neovascular AMD (nAMD) in a Chinese Han population. METHODS: We performed a case-control study in a Chinese Han population. Three tag single nucleotide polymorphisms (SNPs) (rs17576, rs3787268 and rs2274755) of the MMP9 gene were genotyped in 251 patients with PCV, 157 patients with nAMD, and 204 control individuals using the Multiplex SNaPshot system and the direct DNA sequencing technique. The three SNPs genotypes and allele frequencies in the PCV, nAMD and control groups were evaluated using PLINK software and binary logistic regression analysis. RESULTS: In the PCV, nAMD, and control groups, the minor allele frequencies were 0.2099, 0.2070 and 0.2108 for the rs17576 variant; 0.4442, 0.4522 and 0.4461 for the rs3787268 variant; and 0.1036, 0.1338 and 0.1225 for the rs2274755 variant, respectively. The three tag SNPs were not significantly associated with susceptibility to PCV (p = 0.9524, 0.9553, and 0.3672, respectively) or nAMD (p = 0.9015, 0.8692, and 0.6543, respectively). None of the p values for the additive, dominant, or recessive models were statistically significant in the PCV or nAMD group. CONCLUSIONS: No evidence was found to support an association between the MMP9 gene variants and susceptibility to either nAMD or PCV in a Chinese Han population.


Subject(s)
Asian People/genetics , Choroidal Neovascularization/genetics , Matrix Metalloproteinase 9/genetics , Polymorphism, Single Nucleotide , Polyps/genetics , Wet Macular Degeneration/genetics , Aged , Aged, 80 and over , Case-Control Studies , China , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged
12.
PLoS One ; 8(9): e75711, 2013.
Article in English | MEDLINE | ID: mdl-24058698

ABSTRACT

PURPOSE: To evaluate the validity of the novel and noninvasive retro-mode imaging modality of confocal scanning laser ophthalmoscopy (cSLO) for detecting the morphological features of polypoidal choroidal vasculopathy (PCV). DESIGN: Prospective, observational, consecutive case series. METHODS: Twenty-six patients (29 eyes) with PCV were enrolled in this study. All patients underwent comprehensive ophthalmologic examinations and imaging studies, including retro-mode imaging, fundus autofluorescence (FAF), fundus photography, fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA) and spectral-domain optical coherence tomography (SD-OCT). We investigated the retro-mode images and compared the results with those of SD-OCT, FFA and ICGA. RESULTS: In the 29 PCV eyes, the retro-mode images clearly revealed polypoidal lesions in 27 (93.1%) eyes as well as branching vascular networks in 16 (55.2%) eyes. Others findings, including pigment epithelial detachment (PED) in 20 (69.0%) eyes, neuroretinal detachment (NRD) in 3 (10.3%) eyes, cystoid macular edema (CME) in 3 (10.3%) eyes, drusen in 4 (13.8%) eyes and minute granular changes of the retinal pigment epithelium (RPE) in 12 (41.3%) eyes, were also clearly visualized. When we compared the results with those of SD-OCT, FFA and ICGA, there was no significant difference between ICGA and retro-mode imaging for finding polypoidal lesions and (or) branching choroidal vascular networks (P>0.05). However, the rate of PED detection was significantly better with retro-mode imaging than with the ICGA (P<0.05). The differences were not statistically significant between SD-OCT and retro-mode imaging for detecting PED, NRD, CME, drusen and minute granular RPE changes (P>0.05). The differences were not statistically significant between FFA and retro-mode imaging for detecting PED, NRD, CME (P>0.05). CONCLUSIONS: The novel and noninvasive retro-mode imaging by cSLO is able to clearly visualize the morphological features of PCV.


Subject(s)
Choroid Diseases/pathology , Macular Edema/pathology , Ophthalmoscopy/methods , Retinal Pigment Epithelium/pathology , Aged , Female , Humans , Male , Middle Aged , Retinal Pigment Epithelium/blood supply
13.
Exp Eye Res ; 108: 16-22, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23274582

ABSTRACT

Neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) are both major serosanguinous maculopathies among the Asian elderly. They are similar in phenotype. Genetic variants in high-density lipoprotein (HDL) pathway were discovered to be associated with AMD in two genome-wide association studies. In this study with a Chinese Han cohort, we investigated the impacts of these genetic variants on nAMD and PCV separately. The missense coding variants and previously identified variants at LIPC, ABCA1, CETP, LPL and FADS1 loci were genotyped in 157 nAMD patients, 250 PCV patients and 204 controls without any macular abnormality. The known variants in CFH, ARMS2 and near HTRA1 were also genotyped. Fasting serum cholesterol levels were determined. The variants in CFH, ARMS2 and near HTRA1 were strongly associated with both PCV (P < 10(-6), 10(-7) and 10(-7) respectively) and nAMD (P < 10(-6), 10(-16) and 10(-17) respectively). None of the studied HDL-related variants were significantly associated with nAMD. A missense variant in CETP, rs5882, was significantly associated with PCV (P = 2.73 × 10(-4)). The rs5882 GG genotype had a 3.53-fold (95% CI: 1.93-6.45) increased risk for PCV, and conferred a significantly lower serum HDL-cholesterol level for PCV patients than the AA genotype (P = 0.048). These results suggest the need to separate PCV from nAMD in association studies especially with Asian cohorts, and that the HDL pathway may involve in the pathogenesis of PCV and nAMD differently.


Subject(s)
Choroidal Neovascularization/genetics , Lipoproteins, HDL/genetics , Macular Degeneration/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Aged, 80 and over , Asian People/genetics , Biomarkers/blood , Case-Control Studies , Chi-Square Distribution , China/epidemiology , Cholesterol/blood , Cholesterol Ester Transfer Proteins/genetics , Choroidal Neovascularization/blood , Choroidal Neovascularization/ethnology , Delta-5 Fatty Acid Desaturase , Female , Gene Frequency , Genetic Predisposition to Disease , Genome-Wide Association Study , Heterozygote , Homozygote , Humans , Linkage Disequilibrium , Lipoproteins, HDL/blood , Logistic Models , Macular Degeneration/ethnology , Male , Middle Aged , Phenotype , Risk Assessment , Risk Factors
14.
Mol Vis ; 18: 1787-93, 2012.
Article in English | MEDLINE | ID: mdl-22815632

ABSTRACT

PURPOSE: We have previously documented that neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) have multiple different clinical and genetic characteristics. In this study, we investigated the association of rs42524 in the alpha-2 type I collagen (COL1A2) gene, which has been identified as a risk variant for intracranial aneurysm, with nAMD and PCV in a Han Chinese population. METHODS: The study prospectively recruited 195 patients with PCV, 136 patients with nAMD, and 181 control individuals. We genotyped the rs42524 polymorphism of COL1A2 using the Multiplex SNaPshot System and direct DNA sequencing. Genotype and allele frequencies were evaluated with PLINK software. RESULTS: The rs42524 polymorphism was modestly significantly associated with nAMD [minor allele: G, p(allelic)=0.04253, odds ratio=0.5285 (95% confidence interval: 0.2832-0.9866)], but not with PCV [minor allele: G, p(allelic)=0.4164, odds ratio=1.2110 (95% confidence interval: 0.7631-1.9210)]. The pvalues for the additive model were significant for nAMD but not for the dominant or recessive models. None of the models for PCV were statistically significant. The size of our sample cohort resulted in a post hoc power of more than 80% to detect associations of rs42524 with nAMD and PCV. CONCLUSIONS: The rs42524 polymorphism is a risk allele for nAMD in a Han Chinese population. rs42524 in COL1A2 confers different levels of susceptibility to nAMD and PCV.


Subject(s)
Asian People/genetics , Choroid/metabolism , Choroidal Neovascularization/genetics , Collagen Type I/genetics , Macular Degeneration/genetics , Polymorphism, Single Nucleotide/genetics , Aged , Alleles , Case-Control Studies , Choroid/pathology , Cohort Studies , Female , Gene Frequency , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Odds Ratio , Risk
15.
Ophthalmic Genet ; 33(3): 139-43, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22171703

ABSTRACT

BACKGROUND: Recently, two genome-wide association studies with large cohorts both identified rs9621532, a new single nucleotide polymorphism (SNP) that is associated with advanced age-related macular degeneration (AMD) and located near the TIMP3 gene. Previous studies have demonstrated that AMD and polypoidal choroidal vasculopathy (PCV) share some common genetic background and that the incidence of PCV is higher in Asian populations than Caucasian populations. In this study, we aimed to investigate whether the rs9621532 SNP is associated with neovascular AMD (nAMD) and PCV in a Chinese Han population. METHODS: We performed a case-control study in a Chinese Han population. The rs9621532 SNP was genotyped in 136 patients with nAMD, 195 patients with PCV, and 181 control individuals using the Multiplex SNaPshot system and the direct DNA sequencing technique. Rs9621532 genotypes and allele frequencies in the nAMD, PCV and control groups were evaluated using PLINK software. RESULTS: In the nAMD, PCV, and control groups, the minor allele frequencies of the rs9621532 variant were 0.05147, 0.02564, and 0.03039, respectively. The rs9621532 SNP was not significantly associated with susceptibility to nAMD (p = 0.1773) or PCV (p = 0.6933). None of the p-values for the additive or dominant models were found to be statistically significant in the nAMD or PCV groups. No recessive homozygotes were genotyped in any of the three groups. CONCLUSIONS: No evidence was found to support an association between the rs9621532 variant and susceptibility to either nAMD or PCV in a Chinese Han population.


Subject(s)
Asian People/genetics , Choroid Diseases/genetics , Polymorphism, Single Nucleotide , Polyps/genetics , Tissue Inhibitor of Metalloproteinase-3/genetics , Wet Macular Degeneration/genetics , Adult , Aged , Aged, 80 and over , Case-Control Studies , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged
16.
Curr Eye Res ; 37(1): 68-72, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22029535

ABSTRACT

PURPOSE: To investigate whether Met72Thr (rs1136287), a common single nucleotide polymorphism (SNP) variant of the pigment epithelium-derived factor (PEDF) gene, is associated with neovascular age-related macular degeneration (nAMD) or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort. METHODS: We genotyped Met72Thr (rs1136287) in persons of Han Chinese descent: 177 PCV patients, 131 nAMD patients, and 182 control persons. Genotyping was accomplished using the Multiplex SNaPshot system and by direct DNA sequencing. Genotypes and allele frequencies of patients and controls were evaluated for the SNP using PLINK software. RESULTS: The minor allele frequency of the PEDF Met72Thr variant did not differ significantly between either PCV or nAMD and the control group: p = 0.3822 and p = 0.9822, respectively. The p-values for the additive, dominant, and recessive models were not statistically significant for PCV or nAMD. CONCLUSIONS: No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort.


Subject(s)
Choroid Diseases/genetics , Choroid/blood supply , DNA/genetics , Eye Proteins/genetics , Macular Degeneration/genetics , Nerve Growth Factors/genetics , Polymorphism, Genetic , Serpins/genetics , Adult , Aged , Aged, 80 and over , China/epidemiology , Choroid Diseases/epidemiology , Choroid Diseases/metabolism , Eye Proteins/metabolism , Female , Follow-Up Studies , Gene Frequency , Genotype , Humans , Macular Degeneration/epidemiology , Macular Degeneration/metabolism , Male , Middle Aged , Nerve Growth Factors/metabolism , Polyploidy , Prevalence , Serpins/metabolism
17.
Zhonghua Yan Ke Za Zhi ; 47(8): 738-42, 2011 Aug.
Article in Chinese | MEDLINE | ID: mdl-22169615

ABSTRACT

OBJECTIVE: From the point of impact factor and citation to evaluate the academic level and influence of Chinese Journal of Ophthalmology (CJO). METHODS: Using the impact factor (IF) data provided by China Science and Technology Journal Citation Reports (CJCR), and the information of Chinese Medical citation Index (CMCI/CMCC integrated version), the citations from CJO were collected and analyzed with bibliometric methods. RESULT: From 2000 to 2008, the IF of CJO were 0.573, 0.863, 0.702, 0.745, 0.877, 1.031, 0.807, 0.875 and 0.533. From 2000 to 2009, 2485 papers were published in CJO, 1562 of them were referenced (9294 times). The frequency of total citation rate was 62.86%. The region with the highest citation frequency was Guangdong (2661 times), followed by Beijing (2200 times), Shandong (926 times) and Shanghai (901 times). As to the institution, the top of rank was Zhongshan Ophthalmic Center of Sun Yat-Sen University (with 277 papers, 201 citations and 2193 times of citation frequency) and Beijing Tongren Eye Center (with 197 papers, 106 citations and 507 times of citation frequency). CONCLUSION: The IF of CJO was stable, and ranked first in domestic academic of Ophthalmology. Meanwhile, it had a higher frequency of Citation, which shows that CJO has high quality and strong influence, and become one of main core ophthalmology journals in China.


Subject(s)
Academic Dissertations as Topic , Bibliometrics , Journal Impact Factor , Ophthalmology/statistics & numerical data , China , Periodicals as Topic/statistics & numerical data , Publishing
18.
Invest Ophthalmol Vis Sci ; 52(11): 8063-7, 2011 Oct 17.
Article in English | MEDLINE | ID: mdl-21896860

ABSTRACT

PURPOSE: Polypoidal choroidal vasculopathy (PCV) contains aneurismal morphologic and histopathologic feature and it is considered to be a possible distinct entity from neovascular age-related macular degeneration (AMD). In this study, the association of identified risk variants for intracranial aneurysm on chromosome 9p21 with PCV and neovascular AMD in a Chinese Han population was investigated. METHODS: The authors genotyped rs1333040 and rs10757278 on 9p21 in 177 PCV patients, 131 neovascular AMD patients, and 182 controls using a genotyping method and direct DNA sequencing. Allele and genotypes frequencies in the PCV and neovascular AMD groups were compared with controls using a free open-source software and binary logistic regression analysis. RESULTS: Rs1333040 was not associated with PCV or neovascular AMD. Rs10757278 was significantly associated with PCV [risk allele: A, P (allelic) = 0.014; odds ratio = 1.44; 95% confidence interval, 1.08-1.94], but not associated with neovascular AMD. After adjusting for sex, age, smoking status, history of hypertension, type 2 diabetes, and coronary artery disease, the odds ratio for homozygous carriers of rs10757278-A was 2.10 (95% confidence interval, 1.14-3.85) for PCV. CONCLUSIONS: The rs10757278 on chromosome 9p21 is significantly associated with the risk of PCV but not with neovascular AMD in the Chinese Han population.


Subject(s)
Choroid Diseases/genetics , Chromosomes, Human, Pair 9/genetics , Peripheral Vascular Diseases/genetics , Polymorphism, Single Nucleotide , Wet Macular Degeneration/genetics , Adult , Aged , Aged, 80 and over , Alleles , Asian People/genetics , DNA Primers/chemistry , Female , Genotype , Humans , Male , Middle Aged , Odds Ratio
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