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Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

Nature Genetics volume 42, pages 553–555 (2010)Cite this article

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To the Editor:

Hughes et al.1 suggested that a common deletion of the CFHR1 and CFHR3 genes (CFHR1–3Δ) is associated with lower risk of age related macular degeneration (AMD) and that the effect is independent from that of the previously described Y402H allele (rs1061170) in the adjacent CFH gene2. Others have replicated the CFHR1–3Δ association3,4, and this has spurred further research on the function of the CFHR gene family5. In addition to the Y402H coding variant, we and others have described a second independent CFH allele, marked by the rs1410996 intronic SNP6,7.

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Figure 1: Genetics of the CFH–CFHR1–CFHR3 region.

References

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Acknowledgements

We appreciate the support of an anonymous donor to the research of J.M.S., without whom this research would not have been possible. We thank the participants and many ophthalmologists throughout the country who contributed to this study, and D. Mirel and the US National Center for Research Resources (NCRR) Broad Institute Center for Genotyping and Analysis for help with design and execution of the genotyping. This research was supported in part by grants K08AR055688-01A1 (S. Raychaudhuri), RO1-EY11309 (J.M.S.), K12-EY16335 (L.S.), U01 MH085520-01 (S. Ripke) and R01-HG004517 (M.L.) from the US National Institutes of Health (NIH); NIH National Eye Institute intramural program; Massachusetts Lions Eye Research Fund, Inc.; a Challenge Grant from Research to Prevent Blindness to the New England Eye Center, Department of Ophthalmology, Tufts University School of Medicine; a Career Development Award from Research to Prevent Blindness (L.S.); a Harvard Catalyst Faculty Fellowship (L.S.); and the Macular Degeneration Research Fund of the Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine. We thank the Myocardial Infarction Genetics Consortium (MIGen) study for the use of their genotype data as control data in our study. The MIGen study was funded by grants from the NIH–National Heart, Lung and Blood Institute (R01HL087676) and the NIH-NCRR.

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Authors and Affiliations

  1. Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Boston, Massachusetts, USA

    Soumya Raychaudhuri

  2. Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA

    Soumya Raychaudhuri, Stephan Ripke, Benjamin M Neale, Jesen Fagerness & Mark J Daly

  3. Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA

    Soumya Raychaudhuri, Stephan Ripke, Benjamin M Neale, Jesen Fagerness & Mark J Daly

  4. Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    Mingyao Li

  5. Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK

    Benjamin M Neale

  6. Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Boston, Massachusetts, USA

    Robyn Reynolds & Johanna M Seddon

  7. Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Harvard Medical School, Boston, Massachusetts, USA

    Lucia Sobrin

  8. Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

    Anand Swaroop

  9. Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA

    Gonçalo Abecasis

  10. Department of Ophthalmology, Tufts Medical Center, Boston, Massachusetts, USA

    Johanna M Seddon

Authors
  1. Soumya Raychaudhuri
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  2. Stephan Ripke
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  4. Benjamin M Neale
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  7. Lucia Sobrin
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  9. Gonçalo Abecasis
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  10. Johanna M Seddon
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  11. Mark J Daly
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Contributions

S. Raychaudhuri, J.M.S. and M.J.D. conceived this study, conducted statistical analyses, wrote the initial manuscript and interpreted all results. J.M.S., L.S. and R.R. organized the clinical cohort. S. Raychaudhuri, B.M.N. and J.F. conducted initial processing of the SNP data. S. Ripke, M.L., G.A. and AS imputed missing genotype data.

Corresponding authors

Correspondence to Soumya Raychaudhuri, Johanna M Seddon or Mark J Daly.

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The authors declare no competing financial interests.

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Supplementary Text and Figures

Supplementary Methods, Supplementary Figure 1, Supplementary Tables 1–2 (PDF 451 kb)

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Raychaudhuri, S., Ripke, S., Li, M. et al. Associations of CFHR1–CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nat Genet 42, 553–555 (2010). https://doi.org/10.1038/ng0710-553

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