Glutathione-S-transferase M1 and T1 genetic polymorphisms and the risk of cataract development: a study in the Turkish population

In this study, we aimed to determine the effects of genetic polymorphisms of glutathione-S-transferase M1 (GSTM1) and glutathione-S-transferase T1 (GSTT1) on risk of developing different subtypes of age-related cataract in the Turkish population. Using a multiplex polymerase chain reaction (PCR), GSTM1 and GSTT1 gene polymorphisms were analyzed in 195 patients with age-related cataract (75 patients with cortical, 53 with nuclear, 37 with posterior subcapsular, and 30 with mixed type) and in 136 patients of an otherwise healthy control group of similar age. GSTM1 null genotype had a significant association with the development of cataract in female subjects (p < 0.0029; OR, 2.98; 95% CI, 1.41-6.34). This relationship in female subjects was only in nuclear and mixed types cataract cases (p < 0.002; OR, 4.58; 95% CI, 1.67-12.78 and p < 0.03, respectively). There was also a statistically significant association between the combination of GSTM1-null and GSTT1-positive genotypes and the risk of cataract development in female subjects (p = 0.01; OR = 2.87; 95% CI = 1.25-6.69). Stratification by the subtypes revealed that this association was only in nuclear type cataract (p = 0.001; OR, 3.92; 95% CI, 1.34-11.71). GSTM1-null genotype or combination of the GSTM1-null and GSTT1-positive genotypes in females may be associated with increased risk of cataract development in the Turkish population.     

Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians

Primary open-angle glaucoma, the most common form of glaucoma is a slowly progressive atrophy of the optic nerve, characterized by loss of peripheral visual function and is usually associated with elevated intraocular pressure. The etiology and genetic risk factors of primary open-angle glaucoma are mostly unknown. The aim of this study was to find out whether the polymorphism at GSTM1, GSTM3, GSTT1 and GSTP1 loci is associated with increased susceptibility to glaucoma, because these polymorphic enzymes are susceptibility candidates for several diseases, including such eye disease as cataract. The phenotype of GSTM1 and GSTT1 was determined by ELISA and the genotype of GSTM3 and GSTP1 was detected by polymerase chain reaction. Four hundred and fifty two Estonians (250 glaucomas and 202 controls) participated in a case-control study. A significant association of the GSTM1 polymorphism with glaucoma was observed. The frequency of the GSTM1 positive individuals among the glaucoma group was significantly higher than in controls (60 vs. 45.0%) with odds ratio of 1.83 (95% CI 1.26-2.66;P = 0.002). The risk among the GSTM1 positive individuals of developing glaucoma was even higher in the case of smoking: 62.7% of smokers were GSTM1 positive in the glaucoma group while only 33.3% of smokers had GSTM1 positive phenotype in controls (OR = 3.36; 95% CI 1.49-7.56;P = 0.012). An association with a lower level of significance was also found with the GSTM3 gene. Four% of the 250 patients with POAG were identified as carriers of the GSTM3 BB genotype, a proportion which was slightly higher than the 1.0% for the controls (OR = 4.17; 95% CI 0. 90-19.24;P = 0.144). The frequencies of the GSTT1 and GSTP1 genotypes in both groups were not statistically different. The present study suggests that the GSTM1 polymorphism may be associated with increased risk of development of primary open-angle glaucoma.     

Glutathione S-transferase M1, T1, and P1 gene polymorphism in exudative age-related macular degeneration: a preliminary report

PURPOSE: To elucidate whether the gene polymorphisms of glutathione S-transferase (GST) M1, T1, and P1 are associated with the development of exudative age-related macular degeneration. METHODS: The authors genotyped 35 white patients with exudative age-related macular degeneration and 159 healthy controls. Genomic DNA from peripheral blood was examined using polymerase chain reaction and defined for the genetic polymorphisms of GST. RESULTS: No association was observed between GSTM1, GSTT1, and GSTP1 polymorphisms and age-related macular degeneration risk (p>0.05). The frequencies of the combination of the GSTM1 (null) and GSTP1 (mutant), GSTM1 (null), and GSTT1 (null) genotype polymorphisms in patients with exudative age-related macular degeneration differed greatly from those of the control group (p=0.001 OR [95% CI]: 7.70 [2.28-25.98] and p=0.007 OR [95% CI]: 3.88 [1.51-10.02], respectively). CONCLUSIONS: The present study suggests that the GSTM1 (null) and GSTT1 (null), GSTM1 (null), and GSTP1 (mutant) combinations may be a genetic risk factor for the development of exudative age-related macular degeneration. However, the potential role of GST polymorphisms as a marker of susceptibility to age-related macular degeneration needs further studies in a larger number of patients.     

Glutathione S transferase M1 and T1 genetic polymorphisms are related to the risk of primary open-angle glaucoma: a study in a Turkish population

BACKGROUND: Genetic factors and oxidative damage have been shown to have a role in the development of primary open angle glaucoma (POAG). AIM: To determine the effects of genetic polymorphisms of glutathione S transferase (GST)M1 and GSTT1 on the risk of POAG in a Turkish population. METHODS: Using a multiplex polymerase chain reaction (PCR), GSTM1 and GSTT1 gene polymorphisms were analysed in 144 patients with POAG and in 121 otherwise healthy controls of similar age. RESULTS: The GSTM1 positive genotype and the GSTT1 null genotype had an increased risk of developing POAG (p<0.001, OR 2.93, 95% CI 1.66 to 5.20 and OR 4.25, 95% CI 2.30 to 7.80, respectively). The risk of glaucoma also increased significantly in subjects with a combination of GSTM1 positive and GSTT1 null genotypes (p<0.001, OR 3.46, 95% CI 1.64 to 7.38). CONCLUSION: The GSTM1 positive genotype and GSTT1 null genotype or the combination of both may be associated with the increased risk of development of POAG in the Turkish population.     

May glutathione S-transferase M1 positive genotype afford protection against primary open-angle glaucoma?

Purpose To find out whether the polymorphism at GSTM1, GSTT1 and GSTP1 loci is associated with increased susceptibility to glaucoma.Methods We genotyped 153 primary open angle patients and 159 healthy controls. Genomic DNA from peripheral blood was examined using polymerase chain reaction and defined for the genetic polymorphisms of glutathione S-transferase.Results The frequency of the GSTM1 null genotype individuals among the glaucoma patients was significanlty higher than in controls (54.9 vs 40.9%) with odds ratio of 1.64 (95% CI: 1.10–2.59). The frequency of the GSTT1 and GSTP1 in both groups were not statistically different.Conclusion The present study suggests that the GSTM1 null genotype may be a genetic risk factor for development of primary open angle glaucoma. Further associations studies in other polymorphic genes for xenobiotic–metabolizing enzymes are needed to elucidate the environmental-genetic interaction in the underlying cause of primary open angle glaucoma.     

Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development

The association between oxidative or ultraviolet (UV) light induced DNA damage in the lens epithelium and the development of lens opacities, and the existence of DNA repair in lens epithelial cells have been reported. Polymorphisms of DNA repair enzymes may affect repair efficiency. In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum complementation group D (XPD) codon 751 and X-ray cross-complementing group 1 (XRCC1) codon 399, in a sample of Turkish patients with maturity onset cataract. By using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), we analysed XRCC1-Arg399Gln and XPD-Lys751Gln polymorphisms in 195 patients with cataract (75 patients with cortical, 53 with nuclear, 37 with posterior subcapsular, and 30 with mixed type) and in 194 otherwise healthy control group of similar age. There was a significant difference between frequencies for XPD-751 Gln/Gln genotype in cataract patients (12%) and healthy controls (20%) (P=0.008, OR=0.40, 95% CI=0.20-0.81). After stratification by the cataract subtypes, XPD-751 Gln/Gln genotype was found to be significantly different in patients with cortical (4%) type cataract in respect to control subjects (20%) (P=0.038, OR=0.16, 95% CI=0.04-0.64). In addition, the allele frequency of the C (Gln)-allele of XPD-Lys751Gln was found to be significantly different in mixed type cataract group (P=0.008, OR=0.48, 95% CI: 0.26-0.90). No statistically significant difference was found for the genotypic and allelic distributions of the polymorphisms in XRCC1 gene between the groups. These findings suggest that polymorphism in XPD codon 751 may be associated with the development of maturity onset cataract.     

Polymorphism of GST and FTO Genes in Risk Prediction of Cataract among a North Indian Population

Background: The present study was carried out to investigate the association of GST and FTO gene polymorphisms with cataract cases and controls.

Materials and methods: The study included 131 cases and 126 controls. GST and FTO gene polymorphisms were evaluated by PCR-RFLP.

Results: The frequency of the GSTM1-positive and GSTT1-positive in cataract cases were 62.13% and 86.40% while in the controls it was 46.39% and 95.87% with odds ratios of 1.9 (95% CI, 1.08–3.32; p value 0.025) and 0.27 (95% CI, 0.09–0.86; p value, 0.019) respectively. There was a statistically significant association between the GSTM1 null genotype and the risk of cataract development with an odds ratio of 0.43 (95% CI, 0.24–0.76; p value, 0.003). Significant differences were obtained in the frequencies of FTO AA and TT genotype (p?=?0.023 and 0.023) between cases and controls.

Conclusion: The present study suggested that GSTM1, GSTT1 and FTO gene polymorphisms are associated with increased risk for cataract in North Indian populations. Due to the limited sample size, the finding on GST and FTO gene polymorphisms need further investigation.     

Is GST gene polymorphism a risk factor in developing exfoliation syndrome?

PURPOSE: To evaluate the distribution of GSTM1, GSTP1, and GSTT1 gene polymorphisms in exfoliation syndrome (XFS) and the possible associations between the presence of exfoliation syndrome and glutathione S-transferase (GST) gene polymorphisms. METHODS: Using a real-time polymerase chain reaction, GSTM1, GSTP1, and GSTT1 gene polymorphisms were detected in 60 patients with exfoliation syndrome, among which 71.7% had exfoliative glaucoma (43 patients), 16.7% had XFS with elevated intraocular pressure (IOP) (10 patients), and 11.7% had XFS only (7 cases), and in 65 otherwise healthy control group of similar age. RESULTS: Although the exfoliation syndrome group presented a higher prevalence of the GSTM1 null and GSTP1 Ile/Val genotypes than the control group, this increase was not statistically significant. GSTT1 null and GSTP1 Val/Val polymorphisms were also not different among groups. The risk of exfoliation syndrome was not increased as the number of putative high-risk genotypes increase (p = 0.73). CONCLUSIONS: GSTM1, GSTP1, and GSTT1 gene polymorphisms were not different among exfoliation syndrome patients, with or without glaucoma, and the controls therefore GSTM1, GSTP1, and GSTT1 gene polymorphisms did not seem to be associated with the risk of development of exfoliation syndrome.     

我国汉族Vogt-Koyanagi-Harada综合征患者人类白细胞抗原DQB1等位基因多态性研究

目的探讨人类白细胞抗原（HLA）-DQB1等位基因多态性与沃格特-小柳-原田综合征（VKH）遗传易感相关性及与临床表现的关系。方法应用聚合酶链式反应-序列特异性引物（PCR—SSP）,对我国汉族VKH患者和非VKH正常对照者HLA-DQB1等位基因进行分型,分析HLA-DQB1等位基因与患者临床表现的关系。结果收集我国汉族VKH患者88例,非VKH正常对照者88例。VKH患者中男性41例（46．6％）,女性47例（53．4％）;发病年龄15—67岁,平均36岁。VKH患者HLA—DQB1各等位基因频率：HLA-DQB1＊0401为31．8％,DQB1＊0201为17．6％,DQB1＊0301／＊0304为17．1％,DQB1＊0602为12．5％,DQB1＊0303为6．8％,DQB1＊0302为6．3％,DQB1＊0402为1．7％,DQB1＊0502为1.7％,DQB1＊0601为1．7％,DQB1＊0501为1．1％,DQB1＊050为31．1％,DQB1＊0604为0．6％;DQB1＊0603未检出。VKH患者中HLA—DQB1＊0401（VKH组31．8％与对照组4．5％比较,r=44．00,P=0．000,OR=9．8,95％口为4．51—21．31）和HLA—DQB1＊0303（VKH组6．82％与对照组0．57％比较,〈=9．67,P=0．002,伽=12．81,95％CI为1.65—99．58）等位基因频率高于正常人对照组,差异有统计学意义。而VKH患者HLA—DQB1＊0601（VKH组1.7％与对照组9．7％比较,r=10．39,P=0．001,OR=0．16,95％CI为0．05—0．56）和HLA—DQB1＊0302（VKH组6．3％与对照组19．3％比较,r=13．48,P=0．000,OR=0．28,95％CI为0．14—0．57）等位基因频率显著低于正常人对照组,差异有统计学意义。HLA-DQB1＊0401阴性患者与阳性患者之间的临床表现差异无统计学意义（P〈0．01）。结论（I）HLA—DQB1＊0401和DQB1＊0303是VKH的易感等位基因,而HLA-DQB1＊0601和DQB1＊0302是抗性等位基因。HLA-DQB1＊0401基因与临床表现无明显相关性。（2）PCR-SSP可用于快速检测HLA—DQB1等位基因型别。     

Smoking and its association with cataract: results of the Andhra Pradesh eye disease study from India

PURPOSE: To investigate the associations between tobacco smoking and various forms of cataracts among the people of a state in India. METHODS: A population-based cross-sectional epidemiologic study was conducted in the south Indian state of Andhra Pradesh (AP). A total of 10,293 subjects of all ages from one urban and three rural areas, representative of the population of AP, were interviewed, and each underwent a detailed dilated ocular evaluation by trained professionals. Data were analyzed for 7416 (72%) of the subjects aged >15 years. RESULTS: Increasing age was significantly associated with all cataract types and history of prior cataract surgery and/or total cataract. In multivariate analyses, after adjusting for all demographic factors and for history of smoking, females, illiterate persons, and those belonging to the extreme lower socioeconomic status group were found to have a significantly higher prevalence of any cataract, adjusted odds ratio (OR)=1.60 (95% confidence interval [CI]: 1.24-1.96), 1.46 (95% CI: 1.17-1.70), and 1.92 (95% CI: 1.14-3.24), respectively. After adjustment, cigarette and cigar smokers had a significantly higher prevalence of any cataract, adjusted OR=1.51 (95% CI: 1.10-2.06) and 1.44 (95% CI: 1.12-1.84), respectively, compared with those who had never smoked ("never-smokers"). A significantly higher prevalence of nuclear, cortical cataract, and history of prior cataract surgery and/ or total cataract was found among cigarette smokers. A dose-response relationship was seen with respect to cigarette and cigar smoking. After adjustment, compared with never-smokers, cigarette smokers who smoked heavily (>14 "pack-years" of smoking) had a significantly higher prevalence of nuclear cataract (OR=1.65; 95% CI: 1.10-2.59), cortical cataract (OR=2.11; 95% CI: 1.38-3.24), and history of prior cataract surgery and/or total cataract (OR=2.10; 95% CI: 1.05-4.22). Nuclear cataract was significantly higher in cigar smokers (adjusted OR=1.55; 95% CI: 1.16-2.01) and in cigar smokers who smoked heavily (>21 person-years of smoking; OR=1.50; 95% CI: 1.10-1.95), compared with never-smokers. CONCLUSIONS: Consistent with other studies, tobacco smoking was strongly associated with a higher prevalence of nuclear and cortical cataracts and history of prior cataract surgery in this population. These findings suggest yet another need to educate the community on the importance of cessation of tobacco smoking and perhaps incorporating an antismoking message into school health programs.     

Association between metabolic syndrome and age-related cataract

AIM: To determine the effect of metabolic syndrome on age-related cataract formation.METHODS: We analyzed data for 2852 subjects [41.8% men and 58.2% women; mean (±SD) age, 52.9±13.9y], taken from the Korea National Health and Nutrition Examination Survey 2008. Metabolic syndrome was diagnosed by criteria proposed by the Joint Interim Societies. Cataract was diagnosed by using the Lens Opacities Classification System III. The association between metabolic syndrome and cataract was determined using age-adjusted and multivariable logistic regression analyses. RESULTS:In multivariable analyses, men with metabolic syndrome had a 64% increased risk of nuclear cataract [odds ratio (OR), 1.64; 95% confidence interval (CI), 1.12-2.39]. Women with metabolic syndrome had a 56% increased risk of cortical cataract (OR, 1.56; 95% CI, 1.06-2.30). Men and women with metabolic syndrome had a 46% (OR, 1.46; 95% CI, 1.01-2.12) and 49% (OR, 1.49; 95% CI, 1.07-2.08) increased risk of any cataract, respectively. The prevalence of nuclear and any cataract significantly increased with an increasing number of disturbed metabolic components in men, and prevalence of all types of cataracts increased in women. Men using hypoglycemic medication had an increased risk of nuclear (OR, 2.62; 95% CI, 1.41-4.86) and any (OR, 2.27; 95% CI, 1.14-4.51) cataract, and women using antidyslipidemia medication had an increased risk of cortical (OR, 2.18; 95% CI, 1.12-4.24) and any (OR, 2.21; 95% CI, 1.14-4.26) cataract.CONCLUSION: Metabolic syndrome and its components, such as abdominal obesity, high blood pressure, and impaired fasting glucose, are associated with age-related cataract formation in the Korean population.     

Risk factors for age related cataract in a rural population of southern India: the Aravind Comprehensive Eye Study

AIM: To determine risk factors for lens opacities and age related cataract in an older rural population of southern India. METHODS: A cross sectional population based study of 5150 people aged 40 years and above from 50 clusters from three districts in southern India. The lens was graded and classified after dilation using LOCS III system at the slit lamp for cataract. Definite cataract was defined as nuclear opalescence >/=3.0 and/or cortical cataract >/=3.0 and/or PSC >/=2.0. RESULTS: Definite cataracts were found in 2449 (47.5%) of 5150 subjects and the prevalence of cataract increased with age. The age adjusted prevalence of cataract was significantly lower in males (p = 0.0002). Demographic risk factors-increasing age and illiteracy-were common for the three subtypes of cataract; females were more likely to have cortical cataracts and nuclear cataracts. Additionally, nuclear cataracts were associated with moderate smoking (OR:1.28, 95% CI:1.01 to 1.64), lean body mass indices (OR: 1.37, 95% CI: 1.17 to 1.59) and higher waist to hip ratios (OR: 0.67, 95% CI: 0.54 to 0.82); cortical cataracts with hypertension (OR: 1.39 95% CI:1.11 to 1.72), pseudoexfoliation (OR:1.53,95% CI:1.17 to 2.01), and moderate to heavy smoking; and posterior subcapsular cataracts with diabetes (OR:1.55, 95% CI:1.12 to 2.15), lean body mass (OR:1.32, 95% CI:1.11 to 1.57), and high waist to hip ratios (OR: 0.77, 95% CI: 0.62 to 0.94). CONCLUSIONS: Risk factors for age related cataract in this population do not appear to be different from those reported in other populations. Further studies are required to identify the reason for the high prevalence of age related cataract and to understand better the role of each risk factor for cataractogenesis in this population.     

Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration

PURPOSE: To screen polymorphisms in complement factor-H (CFH), toll-like receptor 4 (TLR4), and APOE genes as potential risk factors for age-related macular degeneration (AMD) in Indian patients. METHODS: One hundred patients with AMD and 120 normal control subjects were screened for the polymorphisms by restriction digestion and resequencing. Five intragenic SNPs in CFH were screened to generate haplotype data in cases and controls. The data were analyzed in conjunction with data from other populations based on genotype and haplotype frequencies, and odds ratios were computed to estimate the risk of AMD in the different genotypes. RESULTS: Significant association was noted with the CFH variant (Tyr402His) among AMD cases (P = 1.19 x 10(-7)). Individuals homozygous for the mutant genotype CC had a significantly higher risk (P < 0.0001) of AMD (OR = 11.52; 95% CI 5.05-26.28) than those carrying a single copy of the C allele (OR = 1.51; 95% CI 0.82-2.80), after adjusting for age, gender, and diabetes. Linkage disequilibrium and haplotype analysis at the CFH locus indicated the C-G-T-C-A-G to be a risk haplotype (P = 0.0003). No significant differences were observed in the genotype frequencies of APOE polymorphisms among patients and control subjects (P = 0.76). The carriers of epsilon4 allele had a reduced risk (P = 0.03) of AMD (OR = 0.42, 95% CI 0.19-0.91). TLR4 did not exhibit any association with AMD. CONCLUSIONS: The CFH polymorphism Tyr402His appears indicative of AMD pathogenesis. Diabetes, age, and gender in the presence of the homozygous "CC" genotype in CFH carry an increased risk of AMD. Hence this polymorphism could be used as a potential marker for predictive testing across continents.     

Plasma lutein and zeaxanthin and other carotenoids as modifiable risk factors for age-related maculopathy and cataract: the POLA Study

PURPOSE: To assess the associations of plasma lutein and zeaxanthin and other carotenoids with the risk of age-related maculopathy (ARM) and cataract in the population-based Pathologies Oculaires Liées à l'Age (POLA) Study. METHODS: Retinal photographs were graded according to the international classification. ARM was defined by the presence of late ARM (neovascular ARM, geographic atrophy) and/or soft indistinct drusen (>125 microm) and/or soft distinct drusen (>125 microm) associated with pigmentary abnormalities. Cataract classification was based on a direct standardized lens examination at the slit lamp, according to Lens Opacities Classification System III. Plasma carotenoids were measured by high-performance liquid chromatography (HPLC), in 899 subjects of the cohort. RESULTS: After multivariate adjustment, the highest quintile of plasma zeaxanthin was significantly associated with reduced risk of ARM (OR=0.07; 95% CI: 0.01-0.58; P for trend=0.005), nuclear cataract (OR=0.23; 95% CI: 0.08-0.68; P for trend=0.003) and any cataract (OR=0.53; 95% CI: 0.31-0.89; P for trend=0.01). ARM was significantly associated with combined plasma lutein and zeaxanthin (OR=0.21; 95% CI: 0.05-0.79; P for trend=0.01), and tended to be associated with plasma lutein (OR=0.31; 95% CI: 0.09-1.07; P for trend=0.04), whereas cataract showed no such associations. Among other carotenoids, only beta-carotene showed a significant negative association with nuclear cataract, but not ARM. CONCLUSIONS: These results are strongly suggestive of a protective role of the xanthophylls, in particular zeaxanthin, for the protection against ARM and cataract.     

Plasma antioxidant vitamins and carotenoids and age-related cataract.

OBJECTIVE: To investigate the relationships between plasma concentrations of antioxidant vitamins and carotenoids and nuclear, cortical, and posterior subcapsular cataracts in a group of elderly men and women. DESIGN: Cross-sectional survey. PARTICIPANTS: Three hundred seventy-two men and women, aged 66 to 75 years, born and still living in Sheffield, England. METHODS: The Lens Opacities Classification System (LOCS) III was used to grade nuclear, cortical, and posterior subcapsular lens opacities. Fasting blood samples were taken to assess plasma concentrations of vitamin C, vitamin E, alpha-carotene, beta-carotene, lycopene, lutein, zeaxanthin, and beta-cryptoxanthin. MAIN OUTCOME MEASURES: Logistic regression analyses of the associations between plasma vitamin concentrations and cataract subtype, adjusting for age, gender, and other risk factors. RESULTS: After adjustment for age, gender, and other risk factors, risk of nuclear cataract was lowest in people with the highest plasma concentrations of alpha-carotene (odds ratio [OR], 0.5; 95% confidence interval [CI], 0.3-0.9, P for trend 0.006) or beta-carotene (OR, 0.7; 95% CI, 0.4-1.4, P for trend 0.033). Risk of cortical cataract was lowest in people with the highest plasma concentrations of lycopene (OR, 0.4; 95% CI, 0.2-0.8, P for trend 0.003), and risk of posterior subcapsular cataract was lowest in those with higher concentrations of lutein (OR, 0.5; 95% CI, 0.2-1.0, P for trend 0.012). High plasma concentrations of vitamin C, vitamin E, or the carotenoids zeaxanthin and beta-cryptoxanthin were not associated with decreased risk. CONCLUSIONS: These findings suggest that a diet rich in carotenoids may protect against cataract development, but because they are based on observational data, they need to be confirmed in randomized controlled trials.     

Cardiovascular disease,vascular risk factors and the incidence of cataract and cataract surgery: The Blue Mountains Eye Study

PURPOSE To assess whether an association exists between cardiovascular disease, vascular risk factors and incident cataract and cataract surgery. METHODS The Blue Mountains Eye Study examined 3654 participants =49 years of age during 1992–4, then 2335 survivors (75.1%) after five years. Trained interviewers administered a vascular history questionnaire; height, weight and blood pressure were measured. Lens photographs from both examinations were graded for presence of cortical, nuclear or posterior subcapsular cataract. RESULTS Obesity (body mass index =30kg/m 2 ) was significantly associated with increased incidence of both cortical [odds ratio (OR) 1.6, 95% confidence interval (CI) 1.2–2.2] and posterior subcapsular cataract (OR 2.1, CI 1.2–3.7). Hypertensive participants using medication and aged less than 65 years at baseline had a higher incidence of posterior subcapsular cataract (OR 3.4, 95% CI 1.3–8.4) than normotensive subjects. A history of angina was associated with higher cataract surgery incidence (OR 2.1, 95% CI 1.3–3.5). CONCLUSIONS These longitudinal data provide some evidence supporting a relationship between cardiovascular disease, vascular risk factors and incident cataract and cataract surgery. The findings confirm a number of associations previously documented in cross-sectional data.     

Association of systemic hypertension and diabetes mellitus with cataract extraction. A case-control study

The authors conducted a case-control hospital-based study to assess the prevalence of systemic diseases and drugs in 161 cataract extraction patients and 196 surgical patients matched by age, sex, and race. The data were analyzed using matched multiple logistic regressions. A statistically significant increased risk of cataract extraction was found in patients with systemic hypertension (odds ratio [OR] = 1.49, 95% confidence interval [CI] = 1.06-2.09) and diabetes mellitus (OR = 1.79, 95% CI = 1.23-2.60). Estimation of the combined effect of systemic hypertension and diabetes mellitus resulted in an even higher risk for cataract extraction (OR = 2.66, 95% CI = 1.67-4.23). A positive association of cataract extraction and treatment of systemic hypertension with the diuretic furosemide was also found (OR = 1.95, 95% CI = 1.02-3.74).     

Association between DNA repair genes (XPD and XRCC1) polymorphisms and susceptibility to age-related cataract (ARC): a meta-analysis

Background

DNA repair gene (XPD and XRCC1) polymorphisms have been considered as risk factors for the development of age-related cataract (ARC). To confirm the association between DNA repair gene (XPD and XRCC1) polymorphisms and the risk of ARC, a meta-analysis was conducted.

Methods

A search was made of published literature from Institute for Scientific Information (ISI) Web of Knowledge, PubMed, Google Scholar, China National Knowledge Infrastructure (CNKI), and Wanfang Data. In addition, all studies evaluating the association between DNA repair genes (XPD and XRCC1) polymorphisms and the risk for ARC were included in our analysis. Pooled odds ratio (OR) and 95 % confidence interval (CI) were calculated by using fixed- or random-effects model. The Egger’s test was used to check the publication bias.

Results

Six studies on XRCC1 Arg399Gln (1,300 cases, 1,222 controls) and five studies on XPD Lys751Gln (1,092 cases, 1,061 controls) were included. For the XPD Lys751Gln (A/C) SNP, the overall analysis demonstrated that the CC genotype showed a significant association with a decreased risk for ARC compared with the AA genotype (OR?=?0.59, 95 % CI, 0.38–0.92, P?=?0.019). Similarly, the CC genotype showed a significant association with a decreased risk for ARC compared with the (AA + AC) genotype (OR?=?0.65, 95 % CI, 0.43–0.98, P?=?0.040). Subgroup analysis showed that the association between the CC genotype and decreased risk for ARC is statistically significant in Caucasians (OR?=?0.41, 95 % CI, 0.24–0.73, P?=?0.002) but not in Asians (OR?=?1.06, 95 % CI, 0.51–2.19, P?=?0.877). For the XRCC1 Arg399Gln (G/A) SNP, the overall analysis demonstrated that the A allele showed a significant association with an increased risk for ARC compared with the G allele (OR?=?1.16, 95 % CI, 1.03–1.31, P?=?0.015). Subgroup analyses exhibited that the association between the A allele and the risk for ARC was statistically significant in Asians (OR?=?1.23, 95 % CI, 1.07–1.41, P?=?0.003) but not in Caucasians (OR?=?0.94, 95 % CI, 0.73–1.22, P?=?0.660). Compared with the GG genotype, the GA genotype showed a significant association with an increased risk for ARC in Asians (OR?=?1.32, 95 % CI, 1.08–1.61, P?=?0.006) but not in Caucasians (OR?=?0.58, 95 % CI, 0.27–1.26, P?=?0.171). The Egger’s test did not reveal an obvious publication bias among the included studies.

Conclusions

Our meta-analysis suggested that the CC genotype of XPD Lys751Gln (A/C) SNP seemed to portend a decreased risk for ARC in Caucasian populations but not in Asian populations. The A allele and GA genotype of XRCC1 Arg399Gln (G/A) SNP might increase risk for ARC in Asian populations but not in Caucasian populations. More researches with larger and more different ethnic populations on this issue are therefore necessary.     

Riesgo de catarata en fumadores: metaanálisis de estudios observacionales

Objective

The aim of the study was to compare the risk of cataract in smokers and ex-smokers.

Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy

PURPOSE: Polypoidal choroidal vasculopathy (PCV) is a major cause of serosanguinous maculopathy in Chinese patients with age-related macular degeneration (AMD). Variants in the CFH and HTRA1/LOC387715 genes are strongly associated with AMD in Caucasians and Chinese. Variants in the C2 and BF genes have been found to confer a significantly reduced risk of AMD. This study was undertaken to determine whether these associations occur in Chinese patients with PCV. METHODS: Patients of Chinese ethnicity with clinically and angiographically diagnosed PCV and normal control subjects were recruited from the Singapore National Eye Centre. Five single-nucleotide polymorphisms (SNPs) in the CFH gene, two each within the C2 and BF genes and two variants located in the LOC387715 and HTRA1 genes, were screened in all patients and control subjects. RESULTS: Seventy-two patients with PCV and 93 normal control subjects were studied. A significant association was noted with CFH variants rs3753394 and rs800292 among the PCV cases (P = 0.0015 and P = 0.0045, respectively). Individuals homozygous for the TT genotype of rs3753394 had a significantly higher risk (P = 0.0076) of PCV (OR = 4.29; 95% CI: 1.47-12.50) than those carrying a single copy of the T allele (P = 0.3210; OR = 1.69; 95% CI: 0.60-4.78), after adjustment for such risk factors as age and sex. The genotype frequencies of rs11200638 and rs10490924 in HTRA1 and LOC387715, respectively, were also found to be significantly different between patients with PCV and normal control subjects (P = 0.00032 and P = 0.003, respectively). The AA genotype of rs11200638 and TT genotype of rs10490924 conferred a 4.9-fold (95% CI: 1.85-12.95) and 4.89-fold (95% CI: 1.85-12.90) increased risk of PCV, respectively, after adjustment for age and sex. The Y402H variant of CFH (rs1061170) and the BF and C2 variants were not significantly different in patients and normal control subjects. CONCLUSIONS: The SNPs rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly associated with the risk of PCV in Chinese patients.