PURPOSE. To describe familial correlations of retinal vessel measurements. METHODS. A standardized examination and interview was administered to a population- based cohort of adults aged 43- 86 years. Blood pressure w...PURPOSE. To describe familial correlations of retinal vessel measurements. METHODS. A standardized examination and interview was administered to a population- based cohort of adults aged 43- 86 years. Blood pressure was measured, and family relationships, current smoking status, and photographs of the retina were obtained. Computer- assisted grading was done to determine central retinal arteriole (CRAE) and venule equivalents (CRVE), and the arteriole- to- venule ratio (AVR)- was computed. Familial correlations were calculated using FCOR in the SAGE software package. Analysis was done on the right eye measures for 871 sibling, 341 parent- child, 1362 cousin, 554 avuncular, and 887 spousal pairs. RESULTS. After adjustment for age, gender, mean arterial blood pressure, and current smoking status, the correlations (and 95% confidence interval) between siblings for the CRVE, CRAE,and AVR were 0.23 (0.16, 0.31), 0.20 (0.12, 0.28) and 0.13 (0.05, 0.20), respectively. Parent- child correlations were very similar, and the avuncular correlations were about half as great. The cousin correlations were about half the avuncular correlations. Spousal correlations of 0.03, 0.04, and 0.01 for CRVE, CRAJE, and AVR, respectively, were not significantly different from 0. CONCLUSIONS. Retinal vessel equivalents were more highly correlated between relatives than between unrelated individuals. The relative magnitudes of these correlations were likely the result of shared genes. Because the vessel measurements have been shown to be predictive of cardiovascular and other systemic diseases, understanding the determinants of these familial relationships could have important health benefits.展开更多
PURPOSE. To investigate a potential genetic contribution to intraocular pressure (IOP), we performed a complex segregation analysis on 2337 individuals in 620 extended pedigrees ascertained through a population- based...PURPOSE. To investigate a potential genetic contribution to intraocular pressure (IOP), we performed a complex segregation analysis on 2337 individuals in 620 extended pedigrees ascertained through a population- based cohort, the Beaver Dam Eye Study (BDES). IOP is a principal risk factor for primary open- angle glaucoma (POAG) a leading cause of blindness worldwide. METHODS. Segregation analysis is an analytical method that provides statistical evidence supporting the involvement of a major gene or polygenes in a particular phenotype. Detailed medical histories and eye examinations were performed on all participants. From the two eyes, the higher IOP measurement was used as a continuous trait after adjustment for covariates. Agenome- wide scan(GWS) using affected sib pair linkage analysis was performed on 218 sibling pairs. RESULTS. In this segregation analysis the model that allowed for an unmeasured major environmental effect plus a polygenic/ multifactorial effect provided the best fit and was the most parsimonious model. The lack of an adequate fit for the Mendelian single- gene models is consistent with a multifactorial model of inheritance that may include multiple genes and environmental factors that contribute to IOP. The results of the GWS yielded two novel loci as potential linkage regions for IOP on chromosomes 6 (P=0.008) and 13 (P=0.0007). Neither of these regions has previously been identified in GWS of POAG. CONCLUSIONS. The segregation and familial correlation analyses of IOP suggest a polygenetic component with environmental influences. The pilot linkage study further con- firms the heterogeneity of IOP with the identification of two novel genetic loci.展开更多
PURPOSE. Refractive errors, myopia, and hyperopia are common conditions requiring corrective lenses. The familial clustering of myopia has been well established. Several chromosomal regions have been linked to high my...PURPOSE. Refractive errors, myopia, and hyperopia are common conditions requiring corrective lenses. The familial clustering of myopia has been well established. Several chromosomal regions have been linked to high myopia (12q, 17q, and 18q), to quantitative refraction among twins (3q,4q, 8p, and 11p), and to families with moderate myopia (22q). This study examined the familial aggregation and pattern of inheritance of ocular refraction in an adult population, by using data from the Beaver Dam Eye Study. METHODS. Familial correlations were examined and segregation analysis was performed on the average refractive error measurements in the right and left eyes after adjustment for age, sex, and education. Analyses were based on 2138 individuals in 620 extended pedigrees with complete data on age, sex, education, and spherical equivalent. RESULTS. Substantial positive correlation was found between siblings (0.33), parents and offspring (0.17), and cousins (0.10) and lower correlation among avuncular pairs (0.08) after adjustment for age, sex, and years of education. The results of this segregation analysis do not support the involvement of a single major locus throughout the entire range of refractive error. However,models allowing for familial correlation, attributable in part to polygenic effects, provided a better fit to the observed data than models without a polygenic component, suggesting that several genes of modest effect may influence refractive error, possibly in conjunction with environmental factors. CONCLUSIONS. These results support the involvement of genetic factors in the etiology of refractive error and are consistent with reports of linkage to multiple regions of the genome.展开更多
Context:Statins are widely prescribed for their lipid-lower-ing effects but also have putative antioxidant properties.Oxidative stress is believed to play a role in the development of nuclear cataract,but little is kn...Context:Statins are widely prescribed for their lipid-lower-ing effects but also have putative antioxidant properties.Oxidative stress is believed to play a role in the development of nuclear cataract,but little is known regarding the relationship of statin use and cataract incidence.Objective:To evaluate the relationship of use of statins and incident cataract in adults in a midwestern community in the United States.Design,Setting,and Participants:The Beaver Dam Eye Study,an observational,longitudinal,population-based study of age-related eye disease in Beaver Dam,Wis.There were 1299 persons who were seen at the third examination in 1998-2000,had gradable photographs in both eyes,and were deemed to be at risk of developing nuclear cataract within 5 years.Main Outcome Measure:Five-year incidence of cataract with respect to statin use.Cataracts were graded from photographs taken through the participant’ s dilated pupil.Results:A total of 210 persons developed incident nuclear cataract in the interval from 1998-2000 to 2003-2005.Five-year incidence of nuclear cataract was 12.2% in statin users compared with 17.2% in nonusers(odds ratio OR,0.55;95% confidence interval CI,0.36-0.84),controlling for age.When only never smokers without diabetes were assessed,the age-,lipid level-,and sexadjusted OR was 0.40(95% CI,0.18-0.90).Five-year incidence of cortical cataract was 9.9% in statin users and 7.5% in nonusers(OR,1.28;95% CI,0.79-2.08);posterior subcapsular cataract occurred in 3.0% of statin users and 3.4% of nonusers(OR,0.82;95% CI,0.39-1.71).Conclusion:Statin use in a general population appears to be associated with lower risk of nuclear cataract,the most common type of age-related cataract.展开更多
文摘PURPOSE. To describe familial correlations of retinal vessel measurements. METHODS. A standardized examination and interview was administered to a population- based cohort of adults aged 43- 86 years. Blood pressure was measured, and family relationships, current smoking status, and photographs of the retina were obtained. Computer- assisted grading was done to determine central retinal arteriole (CRAE) and venule equivalents (CRVE), and the arteriole- to- venule ratio (AVR)- was computed. Familial correlations were calculated using FCOR in the SAGE software package. Analysis was done on the right eye measures for 871 sibling, 341 parent- child, 1362 cousin, 554 avuncular, and 887 spousal pairs. RESULTS. After adjustment for age, gender, mean arterial blood pressure, and current smoking status, the correlations (and 95% confidence interval) between siblings for the CRVE, CRAE,and AVR were 0.23 (0.16, 0.31), 0.20 (0.12, 0.28) and 0.13 (0.05, 0.20), respectively. Parent- child correlations were very similar, and the avuncular correlations were about half as great. The cousin correlations were about half the avuncular correlations. Spousal correlations of 0.03, 0.04, and 0.01 for CRVE, CRAJE, and AVR, respectively, were not significantly different from 0. CONCLUSIONS. Retinal vessel equivalents were more highly correlated between relatives than between unrelated individuals. The relative magnitudes of these correlations were likely the result of shared genes. Because the vessel measurements have been shown to be predictive of cardiovascular and other systemic diseases, understanding the determinants of these familial relationships could have important health benefits.
文摘PURPOSE. To investigate a potential genetic contribution to intraocular pressure (IOP), we performed a complex segregation analysis on 2337 individuals in 620 extended pedigrees ascertained through a population- based cohort, the Beaver Dam Eye Study (BDES). IOP is a principal risk factor for primary open- angle glaucoma (POAG) a leading cause of blindness worldwide. METHODS. Segregation analysis is an analytical method that provides statistical evidence supporting the involvement of a major gene or polygenes in a particular phenotype. Detailed medical histories and eye examinations were performed on all participants. From the two eyes, the higher IOP measurement was used as a continuous trait after adjustment for covariates. Agenome- wide scan(GWS) using affected sib pair linkage analysis was performed on 218 sibling pairs. RESULTS. In this segregation analysis the model that allowed for an unmeasured major environmental effect plus a polygenic/ multifactorial effect provided the best fit and was the most parsimonious model. The lack of an adequate fit for the Mendelian single- gene models is consistent with a multifactorial model of inheritance that may include multiple genes and environmental factors that contribute to IOP. The results of the GWS yielded two novel loci as potential linkage regions for IOP on chromosomes 6 (P=0.008) and 13 (P=0.0007). Neither of these regions has previously been identified in GWS of POAG. CONCLUSIONS. The segregation and familial correlation analyses of IOP suggest a polygenetic component with environmental influences. The pilot linkage study further con- firms the heterogeneity of IOP with the identification of two novel genetic loci.
文摘PURPOSE. Refractive errors, myopia, and hyperopia are common conditions requiring corrective lenses. The familial clustering of myopia has been well established. Several chromosomal regions have been linked to high myopia (12q, 17q, and 18q), to quantitative refraction among twins (3q,4q, 8p, and 11p), and to families with moderate myopia (22q). This study examined the familial aggregation and pattern of inheritance of ocular refraction in an adult population, by using data from the Beaver Dam Eye Study. METHODS. Familial correlations were examined and segregation analysis was performed on the average refractive error measurements in the right and left eyes after adjustment for age, sex, and education. Analyses were based on 2138 individuals in 620 extended pedigrees with complete data on age, sex, education, and spherical equivalent. RESULTS. Substantial positive correlation was found between siblings (0.33), parents and offspring (0.17), and cousins (0.10) and lower correlation among avuncular pairs (0.08) after adjustment for age, sex, and years of education. The results of this segregation analysis do not support the involvement of a single major locus throughout the entire range of refractive error. However,models allowing for familial correlation, attributable in part to polygenic effects, provided a better fit to the observed data than models without a polygenic component, suggesting that several genes of modest effect may influence refractive error, possibly in conjunction with environmental factors. CONCLUSIONS. These results support the involvement of genetic factors in the etiology of refractive error and are consistent with reports of linkage to multiple regions of the genome.
文摘Context:Statins are widely prescribed for their lipid-lower-ing effects but also have putative antioxidant properties.Oxidative stress is believed to play a role in the development of nuclear cataract,but little is known regarding the relationship of statin use and cataract incidence.Objective:To evaluate the relationship of use of statins and incident cataract in adults in a midwestern community in the United States.Design,Setting,and Participants:The Beaver Dam Eye Study,an observational,longitudinal,population-based study of age-related eye disease in Beaver Dam,Wis.There were 1299 persons who were seen at the third examination in 1998-2000,had gradable photographs in both eyes,and were deemed to be at risk of developing nuclear cataract within 5 years.Main Outcome Measure:Five-year incidence of cataract with respect to statin use.Cataracts were graded from photographs taken through the participant’ s dilated pupil.Results:A total of 210 persons developed incident nuclear cataract in the interval from 1998-2000 to 2003-2005.Five-year incidence of nuclear cataract was 12.2% in statin users compared with 17.2% in nonusers(odds ratio OR,0.55;95% confidence interval CI,0.36-0.84),controlling for age.When only never smokers without diabetes were assessed,the age-,lipid level-,and sexadjusted OR was 0.40(95% CI,0.18-0.90).Five-year incidence of cortical cataract was 9.9% in statin users and 7.5% in nonusers(OR,1.28;95% CI,0.79-2.08);posterior subcapsular cataract occurred in 3.0% of statin users and 3.4% of nonusers(OR,0.82;95% CI,0.39-1.71).Conclusion:Statin use in a general population appears to be associated with lower risk of nuclear cataract,the most common type of age-related cataract.
