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Defining the genomic architecture of Age-related Macular Degeneration (AMD) to improve diagnosis, treatment, and prevention.


Our consortium members regularly publish in peer-reviewed journals.

Featured publications are listed below and a full listing of research done with IAMDGC datasets follows.  

Landmark papers:  

Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci

Recent papers:  

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration

A Transcriptome-Wide Association Study Based on 27 Tissues Identifies 106 Genes Potentially Relevant for Disease Pathology in Age-Related Macular Degeneration

List of Publications and Presentations from the IAMDGC:

1.  Rare and low-frequency coding variants alter human adult height. Marouli E, et al. 2017 Feb 9;542(7640):186-190. doi: 10.1038/nature21039. Epub 2017 Feb 1. PMID: 28146470 PMCID: PMC5302847

2. A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies. Yang J, Fritsche LG, Zhou X, Abecasis G; International Age-Related Macular Degeneration Genomics Consortium. Am J Hum Genet. 2017 Sep 7;101(3):404-416. doi: 10.1016/j.ajhg.2017.08.002. Epub 2017 Aug 24. PMID: 28844487

 3. Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores. Ding Y, Liu Y, Yan Q, Fritsche LG, Cook RJ, Clemons T, Ratnapriya R, Klein ML, Abecasis GR, Swaroop A, Chew EY, Weeks DE, Chen W; AREDS2 Research Group. Genetics. 2017 May;206(1):119-133. doi: 10.1534/genetics.116.196998. Epub 2017 Mar 24. PMID: 28341650

 4. Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. Persad PJ, Heid IM, Weeks DE, Baird PN, de Jong EK, Haines JL, Pericak-Vance MA, Scott WK; for the International Age-Related Macular Degeneration Genomics Consortium (IAMDGC). Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4027-4038. PMID: 28813576 PMCID: PMC5559178

5. Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K; International AMD Genomics Consortium (IAMDGC), Heid IM, Weber BH. Genome Med. 2017 Mar 27;9(1):29. doi: 10.1186/s13073-017-0418-0. PMID: 28347358 PMCID: PMC5368911

6. Improved score statistics for meta-analysis in single-variant and gene-level association studies. Yang J, Chen S, Abecasis G; IAMDGC. Genet Epidemiol. 2018 Jun;42(4):333-343. doi: 10.1002/gepi.22123. Epub 2018 Apr 25. PMID: 29696691

7. Investigating the Modulation of Genetic Effects on Late AMD by Age and Sex: Lessons Learned and Two Additional Loci. Winkler, T. W., Brandl, C., Grassmann, F., Gorski, M., Stark, K., Loss, J., Weber, B. H. F. Heid, I. M. PLoS One. 2018;13(3):e0194321. Published 2018 Mar 12. doi:10.1371/journal.pone.0194321 PMID: 29529059

8. Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration. Lorés-Motta L, Paun CC, Corominas J, et al. Ophthalmology. 2018;125(7):1064–1074. PMID: 29398083

9. Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration. Lorés-Motta L, Riaz M, Grunin M, Corominas J, van Asten F, Pauper M, Leenders M, Richardson AJ, Muether P, Cree AJ, Griffiths HL, Pham C, Belanger MC, Meester-Smoor MA, Ali M, Heid IM, Fritsche LG, Chakravarthy U, Gale R, McKibbin M, Inglehearn CF, Schlingemann RO, Omar A, Chen J, Koenekoop RK, Fauser S, Guymer RH, Hoyng CB, de Jong EK, Lotery AJ, Mitchell P, den Hollander AI, Baird PN, Chowers I. JAMA Ophthalmol. 2018 Aug 1;136(8):875-884. doi: 10.1001/jamaophthalmol.2018.2019. PMID: 2985203.

10. Y chromosome mosaicism is associated with age-related macular degeneration. Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, Weber BHF; International Age-related Macular Degeneration Genomics Consortium (IAMDGC). Eur J Hum Genet. 2019 Jan;27(1):36-41. doi: 10.1038/s41431-018-0238-8. Epub 2018 Aug 29. PMID: 30158665

11. Geographic distribution of rare variants associated with age-related macular degeneration. Geerlings MJ, Kersten E, Groenewoud JMM, Fritsche LG, Hoyng CB, de Jong EK, den Hollander AI. Mol Vis. 2018 Jan 27;24:75-82. eCollection 2018. PMID: 29410599

12. Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration. Waksmunski AR, Grunin M, Kinzy TG, Igo RP Jr, Haines JL, Cooke Bailey JN; International Age-Related Macular Degeneration Genomics Consortium. Invest Ophthalmol Vis Sci. 2019 Sep 3;60(12):4041-4051. doi: 10.1167/iovs.19-27827. PMID: 31560769

13. On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration. Gorski M, Günther F, Winkler TW, Weber BHF, Heid IM. Genet Epidemiol. 2019;43(5):559–576. doi:10.1002/gepi.22204 PMID: 31016765

14. Single nucleotide polymorphism rs13079080 is associated with differential regulation of the succinate receptor 1 (SUCNR1) gene by miRNA-4470. Louer EMM, Lorés-Motta L, Ion AM, Den Hollander AI, Deen PMT. RNA Biol. 2019 Nov;16(11):1547-1554. doi: 10.1080/15476286.2019.1643100. Epub 2019 Jul 24. PMID: 31304868 Free PMC article.

15. A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration. Strunz T, Lauwen S, Kiel C; International AMD Genomics Consortium (IAMDGC), Hollander AD, Weber BHF. Sci Rep. 2020;10(1):1584. Published 2020 Jan 31. doi:10.1038/s41598-020-58510-9 PMID: 32005911

16. Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration. Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna, Selina McHarg, Nadhim Bayatti, İlhan E. Acar, Carel B. Hoyng, Sascha Fauser, Anthony T. Moore, John R. W. Yates, Eiko K. de Jong, B. Paul Morgan, Anneke I. den Hollander, Paul N. Bishop & Simon J. Clark 2020 Nature Comm Feb 7;11(1):778. doi: 10.1038/s41467-020-14499-3. PMID: 32034129

17. Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data. Grassmann F; International AMD Genomics Consortium (IAMDGC), Weber BHF, Veitia RA. Hum Genet. 2020; 139(3):401–407. doi:10.1007/s00439-019-02029-1 PMID: 31134332

18. Association of a Variant in VWA3A with Response to Anti-Vascular Endothelial Growth Factor Treatment in Neovascular AMD. Grunin M, Beykin G, Rahmani E, et al. Invest Ophthalmol Vis Sci. 2020;61(2):48. doi:10.1167/iovs.61.2.48 PMID: 32106291

19. Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration. Han X, Ong JS, An J, Hewitt AW, Gharahkhani P, MacGregor S. [published online ahead of print, 2020 Jan 3]. Eur J Epidemiol. 2020;10.1007/s10654-019-00598-z. doi:10.1007/s10654-019-00598-z PMID: 31900758

20. Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. Ratnapriya R, Acar İE, Geerlings MJ, Branham K, Kwong A, Saksens NTM, Pauper M, Corominas J, Kwicklis M, Zipprer D, Starostik MR, Othman M, Yashar B, Abecasis GR, Chew EY, Ferrington DA, Hoyng CB, Swaroop A, Hollander AI. Hum Mol Genet. 2020 Apr 3:ddaa057. doi: 10.1093/hmg/ddaa057. Online ahead of print. PMID: 32246154

21. Pleiotropic Locus 15q24.1 reveals a gender-specific association with neovascular but not atrophic age-related macular degeneration. Kiel C, Strunz T, International AMD Genomics Consortium (Project Manager Blanton S), Grassmann F, Weber BHF. Cells. 2020 Oct 8. 9:2257 doi:10.3390/cells9102257.

22. Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. TW Winkler et al. BMC Med Genomics. 2020 Aug 26;13(1):120. doi: 10.1186/s12920-020-00760-7. PMID: 32843070; PMCID: PMC7449002.

23. Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors with Age-Related Macular Degeneration: A Mendelian Randomization Study. Kuan V, Warwick A, Hingorani A, Tufail A, Cipriani V, Burgess S, Sofat R; International AMD Genomics Consortium (IAMDGC).JAMA Ophthalmol. 2021 Nov 4. doi: 10.1001/jamaophthalmol.2021.4601. Online ahead of print.PMID: 34734970

24. Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration. Waksmunski, AR, Grunin M, Kinzy TG, Igo RP, Haines JL, Cooke Bailey JN, BMC Med Genomics. 2020 Jul 6;13 (1):95. doi 10.1186/s12920-020-00747-4


Publications in which the IAMDGC is acknowledged:

  1. Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD). Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, Hewitt AW, Vote BJ, Schmied D, Guymer RH, Weber BH, Baird PN. J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0. PMID: 27090374 PMCID: PMC4835888
  2. The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review. Cooke Bailey JN, Hoffman JD, Sardell RJ, Scott WK, Pericak-Vance MA, Haines JL. J Clin Med. 2016 Mar 4;5(3). pii: E31. doi: 10.3390/jcm5030031. Review. PMID: 26959068 PMCID: PMC4810102
  3. The impact of the human genome project on complex disease Genes (Basel). Bailey JN, Pericak-Vance MA, Haines JL. 2014 Jul 16;5(3):518-35. doi: 10.3390/genes5030518. PMID: 25032678 PMCID: PMC4198915
  4. Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration. Burgess S, Davey Smith G. Ophthalmology. 2017 Aug;124(8):1165-1174. doi: 10.1016/j.ophtha.2017.03.042. Epub 2017 Apr 26. PMID: 28456421 PMCID: PMC5526457
  5. HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization. Fan Q, Maranville JC, Fritsche L, Sim X, Cheung CMG, Chen LJ, Gorski M, Yamashiro K, Ahn J, Laude A, Dorajoo R, Lim TH, Teo YY, Blaustein RO, Yoshimura N, Park KH, Pang CP, Tai ES, Khor CC, Wong TY, Runz H, Cheng CY. Int J Epidemiol. 2017 Sep 12. PMID: 29025108
  6. Selecting likely causal risk factors from high-throughput experiments using multivariable Mendelian randomization. Zuber V, Colijn JM, Klaver C, Burgess S. Nat Commun. 2020;11(1):29. Published 2020 Jan 7. doi:10.1038/s41467-019-13870-3
  7. Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration. Han X, Ong JS, An J, Hewitt AW, Gharahkhani P, MacGregor S. Eur J Epidemiol. 2020 Jan 3. doi: 10.1007/s10654-019-00598-z. Online ahead of print. PMID: 31900758
  8. Genetic Mechanism Revealed of Age-Related Macular Degeneration Based on Fusion of Statistics and Machine Learning Method Yongyi Du, Ning Kong, and Jibin Zhang. Front. Genet., 05 August 2021 |
  9. Genetic Association between MMP9 and Choroidal Neovascularization in Age-Related Macular Degeneration Sohn, Elliott H. et al. Ophthalmology Science, Volume 1, Issue 1, 100002
  10. Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration. International AMD Genomics Consortium (IAMDGC) (2017).  Genetics205(2), 919-924.
  11. Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-related Macular Degeneration. Burgess, S., & Davey, S. G. (2017). Ophthalmology, 124 1165-1174.
  12. Refractive Error Has Minimal Influence on the Risk of Age-Related Macular Degeneration: A Mendelian Randomization Study Wood, Ashley et al.American Journal of Ophthalmology, Volume 206, 87 – 93 
  13. Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium: Anita de Breuk, Ilhan E. Acar, Eveline Kersten, Mascha M.V.A.P. Schijvenaars, Johanna M. Colijn, Lonneke Haer-Wigman, Bjorn Bakker, Sarah de Jong, Magda A. Meester-Smoor, Timo Verzijden, Tom O.A.R. Missotten, Jordi Monés, Marc Biarnés, Daniel Pauleikhoff, Hans W. Hense, Rufino Silva, Sandrina Nunes, Joana B. Melo, Sascha Fauser, Carel B. Hoyng, Marius Ueffing, Marieke J.H. Coenen, Caroline C.W. Klaver, Anneke I. den Hollander, Soufiane Ajana, Audrey Cougnard-Grégoire, Cécile Delcourt, Bénédicte M.J. Merle, Blanca Arango-Gonzalez, Sascha Dammeier, Sigrid Diether, Sabina Honisch, Ellen Kilger, Marius Ueffing, Tanja Endermann, Markus Zumbansen, Franz Badura, Berta De la Cerda, Marc Biarnés, Anna Borrell, Lucia L. Ferraro, Míriam Garcia, Jordi Monés, Eduardo Rodríguez, Johanna M. Colijn, A. Ikram, Caroline C.W. Klaver, Magda Meester-Smoor, Timo Verzijden, Johannes Vingerling, Anneke I. den Hollander, Thomas J. Heesterbeek, Caroline C.W. Klaver, Eveline Kersten, Eiko K. de Jong, I. Erkin Acar, Anita de Breuk, Eszter Emri, Imre Lengyel, Hanno Langen, Everson Nogoceke, Tunde Peto, Phil Luthert, Frances M. Pool,, Ophthalmology,Volume 128, Issue 11,2021,Pages 1604-1617,ISSN 0161-6420,
  14. Sleep, pain, and neurodegeneration: A Mendelian randomization study. Andeep Grover, International Age-related Macular Degeneration Consortium (IAMDGC), Manu Sharmadoi.  Preprint on medRxiv. 
  15. New Technologies to Study Functional Genomics of Age-Related Macular Degeneration. Nguyen T, Urrutia-Cabrera D, Liou RH, Luu CD, Guymer R, Wong RC. Front Cell Dev Biol. 2021 Jan 11;8:604220. doi: 10.3389/fcell.2020.604220. PMID: 33505962; PMCID: PMC7829507.


Contact us:

Susan Halloran Blanton, PhD

Project Manager, IAMDGC