AMD Study - Selected Publications 2012-2015

Johanna M. Seddon, MD, ScM
and the Ophthalmic Epidemiology and Genetics Service

Tufts Medical Center

Yu Y, Reynolds R, Rosner B, Daly MJ, Seddon JM. Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models. Investigative Ophthalmology & Visual Science. 2012;53(3):1548-56. doi: 10.1167/iovs.11-8657. PubMed PMID: 22247473; PubMed Central PMCID: PMC3339916.

Lim LS, Mitchell P, Seddon JM, Holz FG, Wong TY. Age-related macular degeneration. Lancet. 2012;379(9827):1728-38. doi: 10.1016/S0140-6736(12)60282-7. PubMed PMID: 22559899.

Ioannidis JP, Yu Y, Seddon JM. Correction of phenotype misclassification based on high-discrimination genetic predictive risk models. Epidemiology. 2012;23(6):902-9. doi: 10.1097/EDE.0b013e31826c3129. PubMed PMID: 23023008.

Sobrin L, Ripke S, Yu Y, Fagerness J, Bhangale TR, Tan PL, Souied EH, Buitendijk GH, Merriam JE, Richardson AJ, Raychaudhuri S, Reynolds R, Chin KA, Lee AY, Leveziel N, Zack DJ, Campochiaro P, Smith RT, Barile GR, Hogg RE, Chakravarthy U, Behrens TW, Uitterlinden AG, van Duijn CM, Vingerling JR, Brantley MA, Jr., Baird PN, Klaver CC, Allikmets R, Katsanis N, Graham RR, Ioannidis JP, Daly MJ, Seddon JM. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. Ophthalmology. 2012;119(9):1874-85. doi: 10.1016/j.ophtha.2012.03.014. PubMed PMID: 22705344; PubMed Central PMCID: PMC3899891.

Thakkinstian A, McEvoy M, Chakravarthy U, Chakrabarti S, McKay GJ, Ryu E, Silvestri G, Kaur I, Francis P, Iwata T, Akahori M, Arning A, Edwards AO, Seddon JM, Attia J. The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis. American Journal of Epidemiology. 2012;176(5):361-72. doi: 10.1093/aje/kws031. PubMed PMID: 22869612; PubMed Central PMCID: PMC Journal - In Process.

Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Jr., Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, C NK, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Said S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Leveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR, Consortium AMDG. Seven new loci associated with age-related macular degeneration. Nature Genetics. 2013;45(4):433-9, 9e1-2. doi: 10.1038/ng.2578. PubMed PMID: 23455636; PubMed Central PMCID: PMC3739472.

Seddon JM, Reynolds R, Yu Y, Rosner B. Validation of a prediction algorithm for progression to advanced macular degeneration subtypes. JAMA Ophthalmology. 2013;131(4):448-55. doi: 10.1001/jamaophthalmol.2013.2578. PubMed PMID: 23411794.

Reynolds R, Rosner B, Seddon JM. Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy. Ophthalmology. 2013;120(5):1020-8. doi: 10.1016/j.ophtha.2012.10.020. PubMed PMID: 23481534; PubMed Central PMCID: PMC3758110.

Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nature Genetics. 2013;45(11):1366-70. doi: 10.1038/ng.2741. PubMed PMID: 24036952; PubMed Central PMCID: PMC3902040.

Hutchinson JN, Fagerness J, Kirby A, Reynolds R, Zak A, Gimelbrant A, Plenge R, Daly M, Chess A, Seddon JM. (Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies. Human Heredity. 2014;78(2):59-72. doi: 10.1159/000362814. PubMed PMID: 25033836; PubMed Central PMCID: PMC Journal – In Process.

Seddon JM, Reynolds R, Yu Y, Rosner B. Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration. PloS One. 2014;9(1):e87047. doi: 10.1371/journal.pone.0087047. PubMed PMID: 24498017; PubMed Central PMCID: PMC3909074.

Sobrin L, Seddon JM. Nature and nurture- genes and environment- predict onset and progression of macular degeneration. Progress in Retinal and Eye Research. 2014;40:1-15. doi: 10.1016/j.preteyeres.2013.12.004. PubMed PMID: 24374240.

Yu Y, Triebwasser MP, Wong EK, Schramm EC, Thomas B, Reynolds R, Mardis ER, Atkinson JP, Daly M, Raychaudhuri S, Kavanagh D, Seddon JM. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Human Molecular Genetics. 2014;23(19):5283-93. doi: 10.1093/hmg/ddu226. PubMed PMID: 24847005; PubMed Central PMCID: PMC4159152.

Seddon JM, Silver RE, Kwong M, Rosner B. Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates. Investigative Ophthalmology & Visual Science. 2015; 56(4):2192-202. doi: 10.1167/iovs.14-15841. PubMed PMID: 25655794.

Kavanagh D, Yu Y, Schramm EC, Triebwasser M, Wagner EK, Raychaudhuri S, Daly MJ, Atkinson JP, Seddon JM. Rare Genetic Variants in the CFI Gene are Associated with Advanced Age-Related Macular Degeneration and Commonly Result in Reduced Serum Factor I Levels. Human Molecular Genetics. 2015;24(13):3861-70. doi: 10.1093/hmg/ddv091. PubMed PMID: 25788521.

Ferrara D, Seddon J. Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. JAMA Ophthalmology. 2015;133(7):785-91. Doi: 10.1001jamaophthalmol.2015.0814. PubMed PMID: 25880396.

Schramm EC, Clark SJ, Triebwasser MP, Raychaudhuri S, Seddon JM, Atkinson JP. Genetic variants in the complement system predisposing to age-related macular degeneration: a review. Mol Immunol 2014;61(2):118-25. Doi: 10.1016/j.imollmm.2014.06.032. PubMed PMID: 25034031