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AIM: To investigate the association between a set of six candidate genes and the risk of diabetic retinopathy (DR) in an urban community cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: A population-based cross-sectional study. The diabetic subjects were recruited from an urban community in Beijing and categorized into groups of proliferative diabetic retinopathy (PDR), non-proliferative diabetic retinopathy (NPDR), or diabetic without any retinopathy (DWR) based on the fundus photography and duration of diabetes. Six candidate genes, including advanced glycation end product specific receptor (AGER), aldose reductase (AKR1B1), inducible nitric oxide synthase (iNOS), pigment epithelium derived factor (PEDF), tumor necrosis factor-alpha (TNF-α), and paraoxonase 1 (PON1), were chosen based on Meta-analysis of genetic association studies for DR and biochemical pathways implicated in DR progression. The allele and genotype distribution of 21 functional single-nucleotide polymorphisms (SNPs) in those 6 candidate genes were investigated using MassARRAY genotyping system. RESULTS: Among 1461 diabetic patients recruited from community, 569 were selected in following genotyping analysis, including 97 patients with PDR, 217 with NPDR, and 255 with DWR. For the promoter variant rs1051993 in AGER gene, the distribution of allele and genotype in PDR group differed from that in DWR group (allele: P=0.011; genotype: P=0.01). Compared with DWR, patients with PDR had lower frequencies of heterozygous genotype GT (9.8% for DWR, 1% for PDR, OR: 0.10, 95%CI: 0.01-0.72) and minor allele T (4.9% for DWR, 0.5% for PDR, OR: 0.10, 95%CI: 0.01-0.75). In multivariate model, the distribution of genotype for rs1051993 in PDR group was significantly different from that in DWR group (GT vs GG: OR: 0.07, 95%CI: 0.01-0.61, P<0.001). No association with DR was observed in other genotyped SNPs. CONCLUSION: The data suggest a significant association of the promoter variant rs1051993 in AGER gene with PDR in Chinese cohort with T2DM.
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AIM: To investigate the relationship between insulin resistance (IR)/ß-cell dysfunction and diabetic retinopathy (DR) in Chinese patients with type 2 diabetes mellitus (T2DM), and to explore further whether there were differences in the relationship among diabetic patients with higher and lower body mass index (BMI). METHODS: Cross-sectional study. A total of 1466 subjects with T2DM were recruited in a local Desheng Community of urban Beijing from November 2009 to June 2012 for the cohort of Beijing Desheng Diabetic Eye Study. Standardized evaluation was carried out for each participant, including questionnaire, ocular and anthropometric examinations, and laboratory tests. Seven fields 30° color fundus photographs were used for DR grading according to the Early Treatment Diabetic Retinopathy Study protocols. Homeostatis Model Assessment (HOMA) method was employed for IR and ß-cell function assessment. RESULTS: After excluding those participants who were treated with insulin (n=352) or had missing data of fasting insulin (n=96), and further excluding those with poor quality of retinal photographs (n=10), a total of 1008 subjects were included for the final analysis, 406 (40.3%) were men and 602 (59.7%) were women, age ranging from 34 to 86 (64.87±8.28)y. Any DR (levels 14 and above) was present in 278 (27.6%) subjects. After adjusting for possible covariates, the presence of any DR did not correlate with HOMA IR [odds ratio (OR) 1.51, 95% confidence interval (CI) 0.87-2.61, P=0.14] or HOMA ß-cell (OR 0.71, 95%CI 0.40-1.26, P=0.25). After stratification by BMI, the presence of any DR was associated positively with HOMA IR (OR 2.46, 95%CI: 1.18-5.12, P=0.016), and negatively with HOMA ß-cell (OR 0.40, 95%CI: 0.19-0.87, P=0.021) in the group of patients with higher BMI (≥25 kg/m2). In the group of patients with lower BMI (<25 kg/m2), the presence of any DR was not associated with HOMA IR (OR 1.00, 95%CI: 0.43-2.33, P=1.00) or HOMA ß-cell (OR 1.41, 95%CI: 0.60-3.32, P=0.43). CONCLUSION: The data suggest that higher IR and lower ß-cell function are associated with the presence of DR in the subgroup of diabetic patients with higher BMI. However, this association is not statistically significant in diabetic patients with lower BMI.
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AIM: To present the rationale, design, methodology, and the baseline data of the Beijing Desheng Diabetic Eye Study (BDDES), and to determine the prevalence of diabetic retinopathy (DR) and possible risk factors in patients with type 2 diabetes mellitus (T2DM) in an urban community of Beijing, China. METHODS: Community-based prospective cohort study of persons diagnosed with T2DM aged 30y or older. The main variables of interest are the presence and progression of DR as determined by the standardized ETDRS grading of seven fields fundus photographs. The presence and severity of DR were analyzed for possible correlations to non-genetic and genetic dispositions. RESULTS: A total of 1438 participants with data available for analysis, the prevalence of any DR was 35.4%. The prevalence of mild non-proliferative diabetic retinopathy (NPDR), moderate NPDR, severe NPDR, and proliferative diabetic retinopathy was 27.7%, 2.6%, 0.5% and 4.5%, respectively. By multiple logistic regression analysis, risk factors for the presence of any DR included male (P=0.031), lower income level (P=0.011), lower education background (P=0.022), longer duration of diabetes (P=0.001), younger age at diabetic onset (P=0.001), higher systolic blood pressure (P=0.007), higher glycosylated hemoglobin A1c levels (P=0.001), high albuminuria (P=0.03), and use of insulin (P<0.001). For vision-threatening DR, four factors were significant: younger age at diabetic onset (P<0.001), higher systolic blood pressure (P=0.042), high albuminuria (P<0.001), and use of insulin (P<0.001). CONCLUSION: The BDDES is the first large-scale ongoing cohort study of a Chinese urban population of persons with type 2 diabetes. Using standardized grading system comparable to large cohort studies from western populations, our baseline data shows that the prevalence of DR and major risk factors in this Chinese ethnic population are comparable to that found in the western population studies.
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AIM: To gain a better understanding of possible factors that may influence the decision of diabetes persons to participate in annual eye screening in an urban community setting of China. METHODS: A structured interview including questions on attendance of eye screening, knowledge and awareness of diabetic retinopathy was conducted. The presence and degree of retinopathy were assessed using two field non-mydriatic retinal photography. RESULTS: Totally 720 diabetes persons were recruited and 519 were enrolled in this cross-sectional study. In this urban setting of Beijing, among diabetes patients of average of 10y duration, 77% confirmed having undergone at least one eye examination and 61% reported having at least one eye examination with dilated pupil. As for the last 12mo, the number decreased to 210 (47%) and 131 (30%) separately. Most of the participants (95%) were aware that diabetes could affect their vision and that regular eye examination was necessary. Very few of them (12%) however were aware that the early stages of diabetic retinopathy presented without symptoms of vision loss. Having attended patient education on diabetes was effective in building awareness about diabetic eye disease and was a significant positive predictor for attending eye screening [education in a year, Adj. OR=0.47 (0.29-0.74), P<0.001, education years ago, Adj. OR=0.56 (0.33-0.96), P=0.036]. The duration of disease also increased the likelihood of having undergone eye screening (Adj. OR=0.96, P<0.05). CONCLUSION: Being exposed to education about the complications of diabetes increases the probability of attending diabetic eye screening. An appropriate patient knowledge building strategy should be made available to patients from the time of diagnosis.
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AIM: To investigate the relationship between C-reactive protein (CRP) and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: Community-based observational cohort study. There were 1131 participants recruited from November 2009 to September 2011 in Desheng community in urban Beijing. Patients diagnosed T2DM were recruited and underwent a standardized evaluation consisting of a questionnaire, ocular and anthropometric examinations and laboratory investigation. The presence and severity of DR were assessed by seven fields 30° color fundus photographs. Subjects were then classified into groups with no DR, any DR, or vision-threatening DR. CRP was analyzed from serum of study subjects. RESULTS: A total of 1007 patients with T2DM were included for analysis, including 408 (40.5%) men and 599 (59.5%) women. The median CRP level was 1.5 mg/L for women and 1.1 mg/L for men (P=0.004, OR 0.37, 95% CI 0.18-0.74). After adjusting for possible covariates, higher levels of CRP were associated with lower prevalence of any DR (P=0.02, OR 0.55, 95% CI 0.35-0.89), but not associated with vision-threatening DR (P=0.62, OR 0.78, 95% CI 0.28-2.14). After stratification by sex, the inverse association between CRP and DR was found to be statistically significant in men (P=0.006, OR 0.35, 95% CI 0.16-0.73), but not in women (P=0.58, OR 0.88, 95% CI 0.29-1.16). CONCLUSION: The data drawn from a Chinese population with T2DM suggest that increasing CRP levels may be inversely associated with development of DR.
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AIMS: To describe the relationship of retinal arteriolar and venular calibre with diabetic retinopathy (DR) and related risk factors, including glucose levels and other biomarkers in a Chinese population with type 2 diabetes mellitus (T2DM). METHODS: A cross-sectional study. Patients with T2DM were recruited from a local community in urban Beijing. Seven fields 30° colour fundus photographs were taken and examined for the presence and severity of DR using a standardised grading system. Retinal vascular calibres were measured and expressed as average central retinal arteriolar and venular equivalent using a computer-based program. RESULTS: A total of 1340 patients with T2DM were included for analysis. Of these, 472 (35.22%) had DR. Wider retinal venular calibre, but not arteriolar calibre, was associated with increasing glucose and glycosylated haemoglobin A1c levels (p<0.006) and dyslipidaemia (p for trend <0.05). After adjusting for possible covariates, the higher quartile of retinal venular calibre was associated with higher prevalence of any DR (OR 2, 95% CI 1.36 to 2.95). Venular calibre increased from 224.33â µm in those without retinopathy to 231.21â µm in those with mild, 241.01â µm in those with moderate and 235.65â µm in those with severe retinopathy (p for trend <0.001). Arteriolar calibre was not associated with DR. CONCLUSIONS: In the current study, wider venular calibre, but not arteriolar calibre, was shown to be associated with development and increased severity of DR independently from other risk factors in a Chinese diabetic population.
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Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/diagnóstico , Arteria Retiniana/diagnóstico por imagen , Vena Retiniana/diagnóstico por imagen , China/epidemiología , Estudios Transversales , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Retinopatía Diabética/epidemiología , Retinopatía Diabética/etiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Fotograbar , Índice de Severidad de la Enfermedad , Encuestas y CuestionariosRESUMEN
AIM: To measure the macular pigment optical density (MPOD) in healthy Chinese people and patients with early age-related macular degeneration (AMD). METHODS: Cross-sectional population based study. Demographic and lifestyle characteristics were ascertained by questionnaire. A food frequency questionnaire was completed for all participants. Participants underwent general physical and ophthalmic examinations and MPOD was measured by heterochromatic flicker photometry. Foveal architecture was measured by optical coherence tomography. RESULTS: MPOD of 225 participants (122 healthy and 103 early AMD) was 0.48±0.18. Patients with early AMD (0.52±0.19) tended to have higher MPOD levels than healthy people (0.47±0.17), but the difference was not statistically significant (P=0.06). Participants with carrot or corn oil intake every week tended to have higher levels of MPOD (P=0.002 and 0.008 respectively) while those with corn intake had relatively lower level of MPOD (P=0.01). MPOD increased with the center foveal thickness (P=0.01). CONCLUSION: Our findings show that there is no statistically significant association between MPOD and early AMD in the studied population. MPOD is related to center foveal thickness and diets would influence MPOD levels.
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OBJECTIVE: To understand the perception for the use of cataract surgical services in a population of acceptors and non-acceptors of cataract surgery in urban Beijing. METHODS: From a community-based screening program a total of 158 patients with presenting visual acuity of less than 6/18 on either eye due to age-related cataract were informed about the possibility of surgical treatment. These patients were interviewed and re-examined 36 to 46 months after initial screening. The main reasons for not accepting surgery were obtained using a questionnaire. Vision function and vision-related quality of life scores were assessed in those who received and did not receive surgery. RESULTS: At the follow-up examination 116 of the 158 patients were available and 36 (31.0%) had undergone cataract surgery. Cases who chose surgery had higher education level than those who did not seek surgery (OR=2.64, 95% CI: 1.08-6.63, P=0.02). There were no significant differences in vision function (P=0.11) or quality of life scores (P=0.16) between the surgery group and the non-surgery group. Main reasons for not having surgery included no perceived need (50.0%), feeling of being "too old" (19.2%), and worry about the quality of surgery (9.6%). Cost was cited by 1 (1.9%) subject as the main reason for not seeking surgery. CONCLUSIONS: The data suggest that in China's capital urban center for patients with moderate visual impairment there is a relative low acceptance rate of cataract surgery, mainly due to people's perception of marginal benefits of surgery. Cost is not a determining factor as barrier to undergo surgery and patients with poorer education are less likely to undertake surgery.
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Envejecimiento/patología , Extracción de Catarata/estadística & datos numéricos , Catarata/fisiopatología , Población Urbana , Trastornos de la Visión/etiología , Anciano , Animales , Catarata/complicaciones , China , Femenino , Estudios de Seguimiento , Humanos , Masculino , Trastornos de la Visión/fisiopatologíaRESUMEN
OBJECTIVE: To assess the agreement between gonioscopy and ultrasound biomicroscopy (UBM) in detecting angle closure in Chinese patients with shallow anterior chamber. METHODS: An observational comparative study of the two different examination methods was conducted. Patients with normal intraocular pressure and temporal peripheral anterior chamber depth less than a quarter of corneal thickness based on slit lamp examination were included in this study from December 2007 to May 2009 in the outpatient clinic of First Hospital of Tsinghua University. Gonioscopy was performed with a Goldman goniolens in dark room first and followed by full beam light and indentation. If the filtering trabecular meshwork was invisible or any peripheral anterior synechia was found, that quadrant of the angle was considered closed. UBM was first undertaken in a darkened room then repeated with normal room lighting. If iridotrabecular apposition was showed, that quadrant of the angle was considered closed. The status of angle closure of each quadrant with different methods was recorded. RESULTS: 85 eyes of 46 patients were included in this study. The agreement between gonioscopy and UBM was poor (Κ<0.4) with Kappa analysis in both dark and light conditions in each quadrant. The accordance of agreement between gonioscopy and UBM was hardly affected by age or sex, while in dark condition, eyes with deeper anterior chamber (P=0.005) or plateau iris configuration tended to produce different results (P=0.075) in the 2 methods. CONCLUSION: Gonioscopy and UBM are both indispensable methods for detecting angle closure, neither can completely replace the other.
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Glaucoma de Ángulo Cerrado/diagnóstico , Gonioscopía/métodos , HumanosRESUMEN
PURPOSE: To investigate whether variants in a set of eight candidate genes are associated with diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: Case-control study. Patients with T2DM were recruited from the Desheng community in urban Beijing and assigned into a DR group or diabetic without retinopathy (DWR) group, based on the duration of diabetes and grading of fundus images. Twenty-six single-nucleotide polymorphisms (SNPs) within eight candidate genes, including PPARγ, vascular endothelial growth factor (VEGF) and its receptor kinase insert domain receptor (KDR), erythropoietin, aldose reductase, protein kinase C-ß, angiotensin-converting enzyme, and intercellular adhesion molecule 1, were analyzed using the MassARRAY genotyping system. RESULTS: A total of 500 patients with T2DM (216 with DR and 284 with DWR) were enrolled in the study. Significant associations of DR were noted with genotypes of four SNPs-rs699947 (p<0.001), rs833061 (p = 0.001), rs13207351 (p<0.001), and rs2146323 (p=0.006)--in the VEGF gene and one variant, rs2071559, in the KDR gene (p=0.034). After adjustment for covariates, significant association of DR remained with the homozygous genotype of the minor allele for the SNPs rs699947 (odds ratio [OR] = 3.54, 95% confidence interval [CI]: 1.12-11.19), rs833061 (OR = 3.72, 95% CI: 1.17-11.85), rs13207351 (OR = 3.76, 95% CI: 1.21-11.71), and rs2146323 (OR = 2.8, 95% CI: 1.46-5.37) in the VEGF gene as well as the SNP rs2071559 (OR = 1.62, 95% CI: 1.08-2.41) in the KDR gene. However, only rs699947 and rs13207351 in the VEGF gene remained statistically significant after Bonferroni correction. No associations were found in other genes tested. CONCLUSIONS: These data expanded previous observations on the association of DR with variants in the VEGF gene in Chinese patients with T2DM. Moreover, a possible association between DR and KDR polymorphisms is suggested.
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Pueblo Asiatico/genética , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/genética , Retinopatía Diabética/complicaciones , Retinopatía Diabética/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Alelos , Biomarcadores/metabolismo , China , Frecuencia de los Genes/genética , Haplotipos/genética , Humanos , Desequilibrio de Ligamiento/genética , Análisis Multivariante , Polimorfismo de Nucleótido Simple/genética , Factores de RiesgoRESUMEN
PURPOSE: To evaluate the effect of mydriasis and different field strategies on technical failure, probability to refer diabetic retinopathy (DR, sensitivity) and probability not to refer patients without DR (specificity) of digital photography in screening with a fundus camera. METHODS: A total of 531 patients with diabetes underwent fundus photography with cross-combinations of mydriasis/nonmydriasis and single-field/two-field strategies, followed by slit lamp biomicroscopic examination by a trained ophthalmologist. Fundus photographs were graded independently by another experienced ophthalmologist. Calculations were first based on cases with non-gradable images treated as being referred and then with them excluded. RESULTS: Percentages of DR and referable DR in this patient cohort were 22.4% and 7.7%, respectively, based on slit lamp biomicroscopic examination. Mydriasis significantly reduced the technical failure rate from 27.1% to 8.3% under a single-field strategy, and from 28.2% to 8.9% under a two-field strategy. As compared to the single-field strategy, the two-field strategy increased sensitivity from 75.6% to 87.8% without mydriasis and from 73.2% to 90.2% with mydriasis. Mydriasis increased specificity from 68.8% to 84.3% in the single-field strategy and from 64.7% to 81.6% in the two-field strategy. Had the subjects with non-gradable images been excluded, the two-field strategy without mydriasis reported sensitivity of 85.7% and specificity of 91.6%. CONCLUSIONS: Both mydriasis and the two-field strategy are useful in photographic screening tests. Technical failure should be taken into consideration when screening strategies for DR are determined.
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Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/diagnóstico , Fotograbar/métodos , Población Urbana/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , China/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Midriáticos/administración & dosificación , Pupila/efectos de los fármacos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Tropicamida/administración & dosificaciónRESUMEN
PURPOSE: To investigate the association between single-nucleotide polymorphisms in the pi isoform of glutathione S-transferase (GSTP1) gene and the risk of exudative age-related macular degeneration (AMD) in a Chinese case-control cohort. METHODS: A total of 131 Chinese patients with exudative AMD and 138 control individuals were recruited. Genomic DNA was extracted from venous blood leukocytes. Two common nonsynonymous single-nucleotide polymorphisms in GSTP1 (rs1695 and rs1138272) were genotyped by polymerase chain reaction followed by allele-specific restriction enzyme digestion and direct sequencing. RESULTS: Significant association with exudative AMD was detected for single-nucleotide polymorphism, rs1695 (P = 0.019). The risk G allele frequencies were 21.8% in AMD patients and 12.7% in control subjects (P = 0.007). Compared with the wild-type AA genotype, odds ratio for the risk of AMD was 1.91 (95% confidence interval, 1.09-3.35) for the heterozygous AG genotype and 2.52 (95% confidence interval, 0.6-10.61) for the homozygous GG genotype. In contrast, rs1138272 was not associated with exudative AMD (P = 1.00). The risk G allele frequencies of rs1138272 were 0.4% in AMD patients and 0.4% in control subjects (P = 1.00). CONCLUSION: Our data suggest that the GSTP1 variant rs1695 moderately increases the risk of exudative AMD. The variant rs1138272 was rare and was not associated with exudative AMD in this Chinese cohort.
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Gutatión-S-Transferasa pi/genética , Polimorfismo de Nucleótido Simple , Degeneración Macular Húmeda/genética , Anciano , Pueblo Asiatico/genética , Estudios de Casos y Controles , China , Exudados y Transudados , Femenino , Angiografía con Fluoresceína , Genotipo , Humanos , Isoenzimas/genética , Masculino , Reacción en Cadena de la Polimerasa , Factores de Riesgo , Análisis de Secuencia de ADN , Degeneración Macular Húmeda/diagnóstico , Degeneración Macular Húmeda/enzimologíaRESUMEN
PURPOSE: Macular pigment may protect against age-related macular degeneration (AMD) by its capacity to absorb blue light and scavenge free radicals. Current information on human macular pigment density has been largely from studies on Caucasian populations. The purpose of this study was to assess macular pigment density and its determinant factors in a Chinese population sample. METHODS: Macular pigment optical density (MPOD) was measured in a healthy Chinese population using heterochromatic flicker photometry (HFP). Participants received a standard ophthalmic examination, and only subjects who were confirmed not to have any eye diseases except mild age-related cataract were included in the study. Demographic and lifestyle data and general health status were recorded by questionnaire. RESULTS: A total of 281 unrelated healthy Chinese individuals, including 96 males and 185 females, with ages ranging from 17 to 85 years, participated in the study. The mean and standard deviation of MPOD levels were 0.56 ± 0.19, 0.49 ± 0.18, 0.36 ± 0.15, and 0.19 ± 0.12, respectively, at 0.25°, 0.5°, 1.0°, and 1.75° eccentricity points. A significant age-related decline in MPOD was observed at 0.25° (P = 0.014). Females tended to have relatively lower levels of MPOD than males at 0.25° (P = 0.21), 0.5° (P = 0.025), and 1.0° (P = 0.16). No statistically significant association of MPOD was observed with body mass index or smoking status. CONCLUSIONS: Macular pigment density measured by HFP tended to decline with aging in this healthy Chinese population sample. Females may have lower levels of MPOD than males.
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Pueblo Asiatico , Luteína/análisis , Mácula Lútea/química , Pigmentos Retinianos/análisis , Xantófilas/análisis , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Envejecimiento/fisiología , Índice de Masa Corporal , China/epidemiología , Densitometría , Femenino , Fluorofotometría , Humanos , Masculino , Persona de Mediana Edad , Distribución por Sexo , Encuestas y Cuestionarios , Población Urbana/estadística & datos numéricos , Adulto Joven , ZeaxantinasRESUMEN
PURPOSE: To investigate whether single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene are associated with diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). METHODS: A total of 268 patients with T2DM (129 with DR and 139 without DR) were recruited and enrolled in the study. Patients with T2DM were assigned to a DR group or a diabetic-without-retinopathy group, based on the duration of diabetes and grading of fundus images. Genotypes of eight SNPs in the VEGF gene (rs699947, rs833061, rs13207351, rs2010963, rs833069, rs2146323, rs3025021, and rs3025039) were analyzed using a mass-array genotyping system, and an association study was performed. RESULTS: After adjusting for covariates, a significant association of DR was observed with the homozygous genotype of the minor allele for promoter SNPs rs699947 (odds ratio (OR)=3.54, 95% confidence interval (CI): 1.12-11.19), rs833061 (OR=3.72, 95% CI: 1.17-11.85) and rs13207351 (OR=3.76, 95% CI: 1.21-11.71). A significant association of DR was also observed with haplotype ACA, as defined by minor alleles of promoter SNPs rs699947, rs833061, and rs13207351 (OR=1.52, 95% CI: 1.03-2.24), and haplotype GAA, as defined by SNPs rs2010963, rs833069, and rs2146323 (OR=1.62, 95% CI: 1.08-2.41). CONCLUSIONS: Our data suggest that polymorphisms in the promoter region of the VEGF gene increase the risk of DR in Chinese patients with T2DM.
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Diabetes Mellitus Tipo 2/genética , Retinopatía Diabética/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Factor A de Crecimiento Endotelial Vascular/genética , Adulto , Alelos , Estudios de Casos y Controles , Estudios de Cohortes , Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/complicaciones , Femenino , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Análisis de Secuencia por Matrices de Oligonucleótidos , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
PURPOSE: To examine the association between apolipoprotein E (APOE) polymorphisms and age-related macular degeneration (AMD) in a Chinese population. METHODS: The study consisted of 712 subjects, including 201 controls, 363 cases with early AMD, and 148 cases with exudative AMD. Genomic DNA was extracted from venous blood leukocytes. Common allelic variants of APOE (ε2, ε3, and ε4) were analyzed by PCR and direct sequencing. RESULTS: APOE ε3ε3 was the most frequent genotype, with a frequency of 72.6% in controls, 72.5% in early AMD, and 70.3% in exudative AMD. Frequency of the ε2 allele was 6.7% in controls, 7.4% in early AMD, and 8.8% in exudative AMD. Frequency of the ε4 allele was 8.7% in controls, 7.7% in early AMD, and 7.8% in exudative AMD. No statistically significant difference in APOE genotype and allele frequency distribution was observed among controls, cases with early AMD, and cases with exudative AMD. For ε2 allele carriers, the odds ratio was 1.12 (95% confidence interval [CI], 0.65-1.93) for early AMD and 1.06 (95% CI, 0.53-2.10) for exudative AMD. For ε4 allele carriers, the odds ratio was 1.04 (95% CI, 0.61-1.75) for early AMD and 0.83 (95% CI, 0.42-1.62) for exudative AMD. CONCLUSIONS: Our data provide no evidence to support an association of APOE polymorphisms with early or exudative AMD, suggesting that APOE is less likely to be a major AMD susceptibility gene in the Chinese population.
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Apolipoproteína E2/genética , Apolipoproteína E3/genética , Apolipoproteína E4/genética , Degeneración Macular/genética , Polimorfismo Genético , Anciano , Anciano de 80 o más Años , Alelos , Pueblo Asiatico/genética , Estudios de Casos y Controles , ADN/análisis , Frecuencia de los Genes , Genotipo , Humanos , Degeneración Macular/epidemiología , Degeneración Macular/metabolismo , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Fenotipo , Reacción en Cadena de la Polimerasa , Retina/metabolismo , Retina/patología , Factores de Riesgo , FumarRESUMEN
PURPOSE: It has been hypothesized that the macular carotenoids protect against age-related macular degeneration (AMD). In this study, the association between serum concentrations of carotenoids and the presence of AMD was evaluated in a case-control sample of elderly Chinese subjects. METHODS: Two hundred sixty-three individuals aged between 50 and 88 years enrolled in the study. Subjects included 82 cases with exudative AMD, 92 cases with early AMD, and 89 control individuals. Serum carotenoids (lutein, zeaxanthin, lycopene, α- and ß-carotenes, and ß-cryptoxanthin) and retinol were measured with reversed-phase high-performance liquid chromatography (HPLC). RESULTS: Serum levels of carotenoids and retinol were significantly lower in the cases with exudative AMD than in the controls. Median levels of lutein and zeaxanthin were 0.538 and 0.101 µM, respectively, in the control subjects, and 0.488 and 0.076 µM, respectively, in cases with exudative AMD. After adjustment for age, sex, smoking status, and body mass index (BMI), a significant inverse association was observed for exudative AMD with serum zeaxanthin (relative risk ratio [RRR], 0.04; 95% confidence interval [CI], 0-0.35), lycopene (RRR, 0.22; 95% CI, 0.1-0.48), and α-carotene (RRR, 0.24; 95% CI, 0.12-0.51). Early AMD was inversely associated only with lycopene (RRR, 0.49; 95% CI, 0.28-0.86) but was positively associated with α-carotene (RRR, 2.22; 95% CI, 1.37-3.58). No significant associations were observed between serum lutein and cases with early or exudative AMD. CONCLUSIONS: The data suggest that higher levels of serum carotenoids, in particular zeaxanthin and lycopene, are associated with a lower likelihood of having exudative AMD. Serum levels of carotenoids were relatively higher in this Chinese cohort than in samples of other ethnicities in previous reports.
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Pueblo Asiatico/estadística & datos numéricos , Carotenoides/sangre , Degeneración Macular/epidemiología , Degeneración Macular/etiología , Anciano de 80 o más Años , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Humanos , Funciones de Verosimilitud , Licopeno , Masculino , Persona de Mediana Edad , Riesgo , Vitamina A/sangre , Xantófilas/sangre , ZeaxantinasRESUMEN
PURPOSE: We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene. METHODS: Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and genomic DNA was extracted. The exons of RS1 were screened by PCR followed by direct sequencing and/or restriction enzyme digestion. RESULTS: The pedigree of interest was a four-generation family with 52 family members, including seven affected individuals. The proband was a 5-year-old boy showing highly elevated bullous retinoschisis with moderate vitreous hemorrhage in both eyes. Vitrectomy was performed in the left eye of the proband. Five affected males showed large peripheral retinoschisis in both eyes, either involving the macula or combined with foveal stellate cystic change. One of the affected family members showed only a foveal stellate cystic change in both eyes without periphery retinoschisis. Visual acuity of affected individuals ranged from hand motion to 0.4. The R213W mutation in exon 6 of RS1 was identified in all affected individuals, predicting an amino acid substitution of arginine to tryptophan at codon 213. CONCLUSIONS: Our data show that the R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family, providing further evidence for X-linked juvenile retinoschisis phenotypic variability.
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Sustitución de Aminoácidos/genética , Pueblo Asiatico/genética , Proteínas del Ojo/genética , Genes Ligados a X/genética , Retinosquisis/genética , Secuencia de Bases , Preescolar , China , Análisis Mutacional de ADN , Electroforesis en Gel de Agar , Familia , Femenino , Fondo de Ojo , Humanos , Masculino , Datos de Secuencia Molecular , Mutación/genética , Sistemas de Lectura Abierta/genética , Linaje , Retinosquisis/cirugíaRESUMEN
OBJECTIVE: To study the agreement between ophthalmologists and community health workers in detecting shallow anterior chamber with oblique flashlight test. METHODS: Totally 425 subjects were given an eye examination in a community health center. The anterior chamber depth of each subject was examined by one ophthalmologist and two trained community health workers (one nurse and one non-professional health worker) using oblique flashlight test. Inter-observer agreement was determined using the weighted kappa statistic. RESULTS: Among the enrolled subjects, 148 (35%) were male and 277 (65%) were female. Good agreement was noted in all the three observers. The comparison between the ophthalmologist and the nurse showed a kappa statistic of 0.42 for both eyes (P < 0.001). The kappa statistic was 0.54 and 0.52 for right and left eyes respectively between the ophthalmologist and the non-professional health worker (P<0.001). As for agreement between the nurse and the non-professional health, worker, the kappa statistic was 0.49 and 0.38 for right and left eyes, respectively (P < 0.001). CONCLUSION: The oblique flashlight test may be used as an applicable tool by trained community health workers for screening of shallow anterior chamber and play a role in blindness prevention in community.
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Cámara Anterior , Agentes Comunitarios de Salud , Glaucoma de Ángulo Cerrado , Luz , Oftalmología , Adulto , Anciano , Anciano de 80 o más Años , Cámara Anterior/anatomía & histología , Cámara Anterior/patología , Pruebas Diagnósticas de Rutina/normas , Femenino , Glaucoma de Ángulo Cerrado/diagnóstico , Glaucoma de Ángulo Cerrado/patología , Humanos , Masculino , Persona de Mediana Edad , Estimulación Luminosa , Factores de Riesgo , Sensibilidad y Especificidad , Recursos Humanos , Adulto JovenRESUMEN
PURPOSE: To investigate whether the previously reported noncoding variant of the complement factor H (CFH) gene and two coding variants of the complement component 3 (C3) gene are associated with exudative age-related macular degeneration (AMD) in Chinese patients. METHODS: One hundred fifty Chinese patients with exudative AMD and 161 control individuals without AMD were recruited for the study. Genomic DNA was extracted from blood leukocytes. The noncoding variant of the CFH gene (rs1410996) and two coding variants of the C3 gene (rs2230199 and rs1047286) were genotyped by polymerase chain reaction (PCR) followed by allele-specific restriction enzyme digestion and direct sequencing. RESULTS: Significant association was detected for exudative AMD with the CFH noncoding variant rs1410996. Frequencies of the risk C allele at rs1410996 were 72.0% in AMD cases versus 55.6% in controls (P < 0.001). The odds ratio for risk of AMD was 1.71 (95% confidence interval [CI], 0.82-3.54) for heterozygous TC genotype and 3.85 (95% CI, 1.84-8.05) for homozygous CC genotype compared with the wild TT genotype. In contrast, the C3 variants rs2230199 and rs1047286 were not associated with exudative AMD in the studied subjects. Frequencies of the risk G allele at rs2230199 and of the risk T allele at rs1047286 were 0.3% to 1.0% in both cases and controls. CONCLUSIONS: The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk of exudative AMD in a Chinese population. The C3 variants were rare and not associated with exudative AMD in this Chinese cohort.