ABSTRACT
PURPOSE: To analyze the correlations between age-related macular degeneration (AMD) and genetic and environmental risk factors for in a Brazilian population. DESIGN: Cross-sectional study with a control group. METHODS: We collected data on 236 participants 50 years of age or older (141 with AMD and 95 controls without the disease). Data was obtained using a questionnaire and included information on demographics, ocular and medical history, family history of AMD, lifestyle, and smoking and drinking habits. Genetic evaluations included direct sequencing for the LOC387715 (rs10490924) variant, as well as PCR and enzymatic digestion for the CFH Y402H (rs1061170) and HTRA1 (rs11200638) variants. We performed a risk assessment of environmental risk factors and genetic variants associated with AMD and determined correlations between AMD and the data collected using multiple linear regression analysis. RESULTS: Of the 141 AMD cases, 99 (70%) had advanced AMD in at least one eye (57% neovascular AMD and 13% geographic atrophy), and 42 (30%) had not-advanced AMD. Family history of AMD (OR: 6.58; 95% CI: 1.94-22.31), presence of cardiovascular disease (CVD) (OR: 2.39; 95% CI: 1.08-5.28), low physical activity level (OR: 1.39; 95% CI: 0.82-2.37), and high serum cholesterol (OR: 1.49; 95% CI: 0.84-2.65) were associated with an increased risk for AMD. There was a significant association between CVD and incidence of advanced AMD (OR: 2.29; 95% CI 0.81-6.44). The OR for the risk allele of the LOC387715 gene, the CFH gene and the HTRA1 gene were 2.21 (95% CI: 1.47-3.35), 2.27 (95% CI: 1.52-3.37), and 2.76 (95% CI: 1.89-4.03), respectively. In the stepwise multiple linear regression analyses, the HTRA1 and CFH risk alleles, family history of AMD, the LOC387715 risk allele, and CVD were associated with an increased risk of AMD for a total of 25.6% contribution to the AMD phenotype. CONCLUSIONS: The analysis correlating environmental and genetic risk factors such as family history of AMD, and CVD and the variants of HTRA1, CFH, and LOC387715 genes showed an expressive contribution for the development of AMD among this admixed population.
Subject(s)
Cardiovascular Diseases , Wet Macular Degeneration , Angiogenesis Inhibitors , Brazil/epidemiology , Complement Factor H/genetics , Cross-Sectional Studies , Genotype , High-Temperature Requirement A Serine Peptidase 1/genetics , Humans , Polymorphism, Single Nucleotide , Risk Factors , Serine Endopeptidases/genetics , Vascular Endothelial Growth Factor A/genetics , Visual AcuityABSTRACT
Abstract: The aim of this study was to investigate the association of five polymorphisms in the IL1A and IL1B genes in Brazilian patients with primary open angle glaucoma (POAG). A casecontrol study, including 214 unrelated POAG patients and 187 healthy individuals, was conducted to evaluate the frequency of polymorphisms in the IL1A and IL1B genes. Ophthalmic evaluation was performed and genomic DNA was obtained from all participants. Five single nucleotide polymorphisms (SNPs): IL1A (889C/T: rs1800587:C > T, +4845G/T:rs17561G>T) and IL1B (31C/T:rs1143627:T > C, 511C/T:rs16944C>T and +3954C/T:rs1143634:C > T) were genotyped through direct sequencing. The association of individual SNPs was tested using logistic regression. There was an association between the 31C/T and 511 C/T polymorphisms in the IL1B gene with POAG (p = 0.002 and p = 0.009, respectively). High linkage disequilibrium was observed between the 31C/T and 511C/T polymorphisms. The statistical analysis showed that the T/C haplotype (31/511) in the IL1B gene is more frequent in controls (p = 0.011) and the C/T haplotype (31/511) is more common in POAG patients (p = 0.018). Among POAG cases, the genotypic distribution of the 31C/T and 511 C/T SNPs was significantly different in patients who underwent anti-glaucomatous surgery compared to patients without surgery (p = 0.016 and 0.023, respectively). There was no statistically significant difference for the remaining SNPs between POAG patients and controls. In conclusion, the C allele of the 31C/T and the T allele of the 511C/T polymorphisms in the IL1B gene may represent a "risk haplotype" for the development of POAG in Brazilian individuals. Further studies with larger cohorts of patients are necessary to substantiate these findings.
Subject(s)
Genetic Predisposition to Disease/genetics , Glaucoma, Open-Angle/genetics , Interleukin-1alpha/genetics , Interleukin-1beta/genetics , Adult , Aged , Aged, 80 and over , Brazil , Female , Genotype , Humans , Linkage Disequilibrium/genetics , Male , Middle Aged , Polymorphism, Single Nucleotide/geneticsABSTRACT
Infections due to Agrobacterium radiobacter are rare. This study reports 2 cases of A. radiobacter endophthalmitis. To the authors' knowledge, these are only the second and third reported cases of endophthalmitis caused by this Gram-negative rod.
