Meta-analysis of genome scans of age-related macular degenerationSheila A Fisher
Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, London SE1 9RT, UK
Hum Mol Genet 14:2257-64. 2005
..Several of the regions identified here showed only weak evidence for linkage in the individual studies. These results will help prioritize regions for future positional and functional candidate gene studies in AMD...
- Progression of age-related macular degeneration: association with dietary fat, transunsaturated fat, nuts, and fish intake
Johanna M Seddon
Massachusetts Eye and Ear Infirmary, Epidemiology Unit, Harvard School of Public Health, Boston, Massachesetts 02114, USA
Arch Ophthalmol 121:1728-37. 2003
..Evidence is sparse regarding modifiable factors that may decrease the risk of progression to the advanced forms of AMD...
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypesLucia Sobrin
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA
Ophthalmology 119:1874-85. 2012
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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenerationYi Yu
Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine, 800 WashingtonStreet, No 450, Boston, MA 02111, USA
Hum Mol Genet 20:3699-709. 2011
..The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD...
- Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables
Johanna M Seddon
Ophthalmic Epidemiology and Genetics Service, Tufts University School of Medicine and Tufts Medical Center, Boston, Massachusetts 02111, USA
Invest Ophthalmol Vis Sci 50:2044-53. 2009
..The joint effects of genetic, ocular, and environmental variables were evaluated and predictive models for prevalence and incidence of AMD were assessed...
- Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes
Robyn Reynolds
Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts University School of Medicine, Tufts Medical Center, Boston, Massachusetts 02111, USA
Invest Ophthalmol Vis Sci 50:5818-27. 2009
..This study was conducted to determine whether alterations in circulating levels of these markers of complement activation and regulation are also independently associated with advanced AMD and whether they are related to AMD genotypes...
- Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies
Johanna M Seddon
Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts University School of Medicine and Tufts Medical Center, New England Eye Center, Boston, Massachusetts 02111, USA
Invest Ophthalmol Vis Sci 50:586-91. 2009
..To evaluate the relationship between peripheral retinal drusen and reticular pigment changes and genotypes associated with age-related macular degeneration (AMD)...
- Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration
Robyn Reynolds
Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Department of Ophthalmology, Tufts Medical Center, Boston, Massachusetts 02111, USA
Ophthalmology 117:1989-95. 2010
..In this study, we evaluated whether LIPC is associated with serum lipids, and whether this gene and serum lipids are independently associated with AMD...
- Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Benjamin M Neale
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 107:7395-400. 2010
..Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD...
- Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors
Johanna M Seddon
Ophthalmic Epidemiology and Genetics Service, Tufts University School of Medicine and Tufts Medical Center, New England Eye Center, Boston, Massachusetts, USA
Ophthalmology 118:2203-11. 2011
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- C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration
Johanna M Seddon
Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA
Ophthalmology 117:1560-6. 2010
..We evaluated their independent and combined effects on risk of AMD, as well as their interactions...
- Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration
Yi Yu
Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts Medical Center, Boston, Massachusetts, USA
Invest Ophthalmol Vis Sci 52:4663-70. 2011
..There is little information about which genes influence drusen accumulation. Discovery of genetic variants associated with drusen may lead to prevention and treatments of AMD in its early stages...
- Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: the US Twin Study of Age-Related Macular Degeneration
Johanna M Seddon
Massachusetts Eye and Ear Infirmary and Channing Laboratory, Harvard Medical School, 243 Charles Street, Boston, MA, USA
Arch Ophthalmol 124:995-1001. 2006
..To evaluate modifiable risk and protective factors for age-related macular degeneration (AMD) among elderly twins...
- ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration
Lucia Sobrin
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
Am J Ophthalmol 151:345-52.e3. 2011
..To determine if genetic variants that have been associated with age-related macular degeneration (AMD) have a differential effect on the risk of choroidal neovascularization (CNV) and geographic atrophy...
- C-reactive protein and homocysteine are associated with dietary and behavioral risk factors for age-related macular degeneration
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA
Nutrition 22:441-3. 2006
..We investigated whether age-related macular degeneration risk factors are associated with high-sensitivity C-reactive protein (CRP) and homocysteine (HCY), systemic biomarkers for cardiovascular disease...
- Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration
Johanna M Seddon
Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts New England Medical Center, Boston, MA 02111, USA
JAMA 297:1793-800. 2007
..Studies have reported that single-nucleotide polymorphisms in the genes CFH and LOC387715 are associated with age-related macular degeneration (AMD)...
- Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach
Lucia Sobrin
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
Eur J Hum Genet 18:496-501. 2010
..Given that these densely affected families may harbor rare, more penetrant variants for AMD, linkage analyses and resequencing targeting these families may be an effective approach to finding additional implicated genes...
- Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models
Yi Yu
Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Department of Ophthalmology, Tufts Medical Center, Boston, Massachusetts, USA
Invest Ophthalmol Vis Sci 53:1548-56. 2012
..Understanding the effect of genes on progression to different stages of age-related macular degeneration (AMD) may suggest stage-specific therapeutic targets and more precise prediction of the development of this disease...
- Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications
Johanna M Seddon
New England Eye Center, Tufts Medical Center, Boston, MA, USA
Ophthalmology 118:1386-94. 2011
..We evaluated monozygotic twin pairs with discordant age-related macular degeneration (AMD) phenotypes to assess differences in behavioral and nutritional factors...
- CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA
Hum Hered 61:157-65. 2006
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- A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
Soumya Raychaudhuri
Division of Genetics, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 43:1232-6. 2011
..This result suggests that loss-of-function alleles at CFH are likely to drive AMD risk. This finding represents one of the first instances in which a common complex disease variant has led to the discovery of a rare penetrant mutation...
- Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration
Johanna M Seddon
Ophthalmic Epidemiology and Genetics Service, Department of Ophthalmology, Tufts Medical Center, Tufts University School of Medicine, and Channing Laboratory, Brigham and Women s Hospital, Boston, MA 02111, USA
Mol Vis 16:2412-24. 2010
..We evaluated its association and interaction with previously identified genetic variants and modifiable factors...
- Variation near complement factor I is associated with risk of advanced AMD
Jesen A Fagerness
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
Eur J Hum Genet 17:100-4. 2009
..No obvious functional variation was discovered that could be the proximate cause of the association, suggesting a noncoding regulatory mechanism...
- Evaluation of plasma homocysteine and risk of age-related macular degeneration
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
Am J Ophthalmol 141:201-3. 2006
..To assess the relationship between plasma levels of homocysteine and age-related macular degeneration (AMD)...
- Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
Julian Maller
Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge St, Boston, Massachusetts 02114, USA
Nat Genet 38:1055-9. 2006
..Genotypes at these five common SNPs define a broad spectrum of interindividual disease risk and explain about half of the classical sibling risk of AMD in our study population...
- Multivitamin-multimineral supplements and eye disease: age-related macular degeneration and cataract
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
Am J Clin Nutr 85:304S-307S. 2007
..The Age-Related Eye Disease Study II will evaluate some of these additional nutrients as dietary supplements in a randomized trial...
- Progression of age-related macular degeneration: prospective assessment of C-reactive protein, interleukin 6, and other cardiovascular biomarkers
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Arch Ophthalmol 123:774-82. 2005
..The CRP and IL-6 levels were both significantly related to higher body mass index and current smoking. CONCLUSIONS: Higher levels of the systemic inflammatory markers CRP and IL-6 are independently associated with progression of AMD...
- The genetics of age-related macular degeneration: a review of progress to date
Stephen Haddad
Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, 02114, USA
Surv Ophthalmol 51:316-63. 2006
..Among these, apolipoprotein E (APOE) may be a minor risk locus. Additional genes will likely be identified, and future studies should explore the potential interactions of these genes with other genes as well as environmental factors...
- Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
Arch Ophthalmol 121:785-92. 2003
..To advise these high-risk patients regarding preventive measures, we evaluated anthropomorphic, behavioral, and medical factors associated with progression to the advanced stages of AMD associated with visual loss...
- Prospective study of intake of fruits, vegetables, vitamins, and carotenoids and risk of age-related maculopathy
Eunyoung Cho
Channing Laboratory, Department of Medicine, Harvard Medical School and Brigham and Women s Hospital, Boston, MA 02115, USA
Arch Ophthalmol 122:883-92. 2004
..To examine the intake of antioxidant vitamins and carotenoids as well as fruits and vegetables in relation to the development of age-related maculopathy (ARM)...
- The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Department of Opthalmology, Harvaed Medical School, Boston, MA 02114, USA
Arch Ophthalmol 123:321-7. 2005
..The relative importance of genes and environment in the etiology of this major public health problem is not well understood...
- Kidney function, albuminuria and age-related macular degeneration in NHANES III
Daniel E Weiner
Division of Nephrology, Department of Medicine, Tufts Medical Center and Tufts University School of Medicine, Boston, MA, USA
Nephrol Dial Transplant 26:3159-65. 2011
..Accordingly, we explored a population-based cohort of US adults to examine if markers of kidney disease identify a higher risk population for prevalent AMD...
- Variation in complement factor 3 is associated with risk of age-related macular degeneration
Julian B Maller
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Nat Genet 39:1200-1. 2007
..We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample...
- Review of genetics in age related macular degeneration
Sandra R Montezuma
Massachusetts Eye and Ear Infirmary and the Department of Ophthalmology, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA
Semin Ophthalmol 22:229-40. 2007
..Understanding the causative environmental and genetic interactions will facilitate the development of future preventive methods and treatments...
- Cystoid macular edema without macular thickening: a retrospective optical coherence tomographic study
Jason J Jun
New England Eye Center, Tufts University School of Medicine, Boston, Massachusetts 02116, USA
Retina 30:917-23. 2010
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- Dietary glycemic load and risk of age-related cataract
Debra A Schaumberg
Division of Preventive Medicine and Nutrition, Harvard School of Public Health, 900 Commonwealth Avenue East, Boston, MA 02215, USA
Am J Clin Nutr 80:489-95. 2004
..Although hyperglycemia is a risk factor for cataract, there is no information on the potential effect of a high dietary glycemic load on the incidence of age-related cataract...
- A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions
Johanna M Seddon
Ophthalmology Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA
Am J Hum Genet 73:780-90. 2003
..00001. The consistency of many of the other signals across both two-point and multipoint, as well as parametric and nonparametric, analyses indicate several other regions worthy of follow-up...
- Evaluation of the clinical age-related maculopathy staging system
Johanna M Seddon
Epidemiology Unit, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts 02114, USA
Ophthalmology 113:260-6. 2006
..97). CONCLUSIONS: The CARMS system, a 5-level clinical scale, is a valid and reliable staging system that can be used in both clinical practice and in clinical research protocols involving patients with all stages of ARM...
- The epidemiology of age-related macular degeneration
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
Int Ophthalmol Clin 44:17-39. 2004
- Association between reproductive and hormonal factors and age-related maculopathy in postmenopausal women
Kristin K Snow
Massachusetts Eye and Ear Infirmary, Epidemiology Unit, Boston, Massachusetts 02114, USA
Am J Ophthalmol 134:842-8. 2002
..Few therapeutic or preventive measures currently exist for ARM; therefore, these results deserve further evaluation...
- Association between C-reactive protein and age-related macular degeneration
Johanna M Seddon
Epidemiology Unit, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Mass 02114, USA
JAMA 291:704-10. 2004
..Some risk factors for CVD are associated with age-related macular degeneration (AMD), but the association between CRP and AMD is unknown...
- The relationship of dietary omega-3 long-chain polyunsaturated fatty acid intake with incident age-related macular degeneration: AREDS report no. 23
John Paul SanGiovanni
National Eye Institute, Bethesda, Maryland, USA
Arch Ophthalmol 126:1274-9. 2008
..To examine the association of dietary omega-3 long-chain polyunsaturated fatty acid and fish intake with incident neovascular age-related macular degeneration (AMD) and central geographic atrophy (CGA)...
- The relationship of dietary lipid intake and age-related macular degeneration in a case-control study: AREDS Report No. 20
John Paul SanGiovanni
AREDS Coordinating Center, The EMMES Corporation, 401 N Washington Street, Rockville, MD 20850, USA
Arch Ophthalmol 125:671-9. 2007
..To evaluate the association of lipid intake with baseline severity of age-related macular degeneration (AMD) in the Age-Related Eye Disease Study (AREDS)...
- The relationship of dietary carotenoid and vitamin A, E, and C intake with age-related macular degeneration in a case-control study: AREDS Report No. 22
John Paul SanGiovanni
The EMMES Corporation, 401 N Washington St, Ste 700, Rockville, MD 20850 1707, USA
Arch Ophthalmol 125:1225-32. 2007
..To evaluate the relationship of dietary carotenoids, vitamin A, alpha-tocopherol, and vitamin C with prevalent age-related macular degeneration (AMD) in the Age-Related Eye Disease Study (AREDS)...
- Potential public health impact of Age-Related Eye Disease Study results: AREDS report no. 11
Neil M Bressler
Arch Ophthalmol 121:1621-4. 2003
..CONCLUSION: If people at high risk for advanced AMD received supplements such as those suggested by AREDS results, the potential impact on public health in the United States would be considerable during the next 5 years...
- Risk factors for the incidence of Advanced Age-Related Macular Degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19
Traci E Clemons
The EMMES Corporation, Rockville, Maryland 20850-1707, USA
Ophthalmology 112:533-9. 2005
..g., use of antacids and antiinflammatory medications) that warrant further study. This article contains additional online-only material available at http://www.ophsource.org/periodicals/ophtha. ...
- Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings
Paul S Bernstein
Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
Invest Ophthalmol Vis Sci 43:466-73. 2002
..This genetically related population provides a cohort of subjects with similar age and ethnic background for genotype-phenotype comparison to the original probands...
- A discordant sib-pair linkage analysis of age-related macular degeneration
Susan L Santangelo
Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 149 13th Street, Charlestown, MA, USA
Ophthalmic Genet 26:61-7. 2005
..Our prior genome scan in 511 affected sib-pairs and other relative pairs identified significant or suggestive linkage signals on chromosomes 1, 2, 3, 6, 8, 10, 12, 16, and 22...
- Hormone therapy and age-related macular degeneration: the Women's Health Initiative Sight Exam Study
Mary N Haan
Department of Epidemiology, University of Michigan, 611 Church Street, Ann Arbor, MI 48104, USA
Arch Ophthalmol 124:988-92. 2006
..To determine the effectiveness of treatment with conjugated equine estrogens (CEE) or with CEE combined with progestin (CEE + P) on age-related macular degeneration (AMD)...
- Cancer screening practices of adult survivors of retinoblastoma at risk of second cancers
Victoria Sheen
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland 20852, USA
Cancer 113:434-41. 2008
..The aim of the current study was to investigate the pattern of cancer screening behavior in adult retinoblastoma survivors, who are at high risk of developing second cancers...
- The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration
Peter J Francis
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR 97239, USA
Hum Hered 63:212-8. 2007
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- CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration
Michael L Klein
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA
Ophthalmology 115:1019-25. 2008
..To determine if CFH and LOC387715/ARMS2 genotypes influence treatment response to AREDS-type nutritional supplementation with antioxidants and zinc...
- Tobacco use in adult long-term survivors of retinoblastoma
Meredith C Foster
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, EPS 7044, 6120 Executive Boulevard, Rockville, MD 20852, USA
Cancer Epidemiol Biomarkers Prev 15:1464-8. 2006
..Smoking did not account for the increased risk of lung cancer among hereditary Rb patients, and this may point to an enhanced sensitivity to the carcinogenic effects of tobacco. Adult survivors of Rb should be encouraged to stop smoking...
