International AMD Genomics Consortium

In the International AMD Genomics Consortium (IAMDGC), we gathered 26 studies with each including (i) advanced AMD cases with GA and/or CNV in at least one eye and age at first diagnosis ≥ 50 years, (ii) intermediate AMD cases with pigmentary changes in the RPE or more than five macular drusen greater than 63μm and age at first diagnosis ≥ 50 years, or (iii) controls without known advanced or intermediate AMD. Recruitment and ascertainment strategies varied by study (Supplementary Tables 1 and 2, Supplementary Note 7). All groups collected data according to the Declaration of Helsinki principles. Study participants provided informed consent and protocols were reviewed and approved by local ethics committees.

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Fritsche L.G., Igl W., Cooke Bailey J.N., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P., Bala E., Lee K.E., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., von Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C., Mohand-Saïd S., Sahel J.A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.F., Igo RP J.r., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tƒan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley MA J.r., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T., de Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., van Duijn C.M., Doheny K.F., Romm J., Klaver C.C., Hayward C., Gorin M.B., Klein M.L., Baird P.N., den Hollander A.I., Fauser S., Yates J.R., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H., Abecasis G.R, & Heid I.M. (2015). A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature genetics, 48(2), 134-143.

Publication 2015

Diagnosis Local ethics committees Macular Pigmentary

Corresponding Organization :

Other organizations : University of Michigan–Ann Arbor, University of Regensburg, Case Western Reserve University, University School, University of Tasmania, Marshfield Clinic, Center for Human Genetics, University of California, San Diego, Massachusetts Eye and Ear Infirmary, Harvard University, University of Pennsylvania, Johns Hopkins Medicine, Johns Hopkins University, Université Paris-Est Créteil, Hôpital Intercommunal de Créteil, Louis Stokes Cleveland VA Medical Center, University of Wisconsin–Madison, University of Miami, Westmead Institute for Medical Research, University of Sydney, Columbia University, University College London, Vanderbilt University Medical Center, University Hospital Cologne, Radboud University Nijmegen, Radboud University Medical Center, Centre for Eye Research Australia, University of Melbourne, The University of Texas Rio Grande Valley, University of Pittsburgh, MRC Institute of Genetics and Molecular Medicine, Medical Research Council, University of Edinburgh, Erasmus MC, National Eye Institute, National Institutes of Health, Flinders University, Flinders Medical Centre, Lions Eye Institute, University of Western Australia, University of Electronic Science and Technology of China, Sichuan University, Ludwig-Maximilians-Universität München, University of Utah, Boston Public Schools, Boston University, Seoul Metropolitan Government, Seoul National University, Boramae Medical Center, Queen's University Belfast, University of Thessaly, Seoul National University Bundang Hospital, Cornell University, Penn Presbyterian Medical Center, University of Alabama at Birmingham, Inserm, Centre hospitalier national d'ophtalmologie des Quinze-Vingts, University of Southampton, University Hospital Southampton NHS Foundation Trust, Hadassah Medical Center, Duke University, University of Bonn, Fondation Jean Dausset-CEPH, Duke Medical Center, University of Cambridge, Moorfields Eye Hospital, Vanderbilt University, Oregon Health & Science University, University of California, Los Angeles, Cleveland Eye Clinic, Cleveland Clinic

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Variable analysis

independent variables

None explicitly mentioned

dependent variables

Advanced AMD cases with GA and/or CNV in at least one eye and age at first diagnosis ≥ 50 years
Intermediate AMD cases with pigmentary changes in the RPE or more than five macular drusen greater than 63μm and age at first diagnosis ≥ 50 years
Controls without known advanced or intermediate AMD

control variables

Age at first diagnosis ≥ 50 years
Recruitment and ascertainment strategies varied by study

positive controls

None explicitly mentioned

negative controls

Controls without known advanced or intermediate AMD

Annotations

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