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The Chromosome 10q26 Susceptibility Locus in Age-Related Macular Degeneration

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 723))

Abstract

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. Two major risk loci for the disease have been identified: CFH on chromosome 1 and a locus in chromosomal region 10q26. The CFH association clearly implicates the alternative complement pathway in disease, but the chr10q26 locus, spanning the ARMS2 and HTRA1 genes, is the subject of controversy. High linkage disequilibrium in this region prevents elucidation of the causal variant or even which gene influences AMD susceptibility. There are conflicting reports of alterations in transcript or protein levels of both ARMS2 and HTRA1 in AMD, so the issue remains unresolved. In this chapter, HTRA1 – a serine protease with known roles in extracellular matrix (ECM) degradation and TGF® signalling – is evaluated as a candidate gene for regulating susceptibility in AMD.

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Author information

Authors and Affiliations

  1. MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK

    Chloe M. Stanton, Kevin J. Chalmers & Alan F. Wright

Authors
  1. Chloe M. Stanton
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  2. Kevin J. Chalmers
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  3. Alan F. Wright
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Corresponding author

Correspondence to Chloe M. Stanton .

Editor information

Editors and Affiliations

  1. University of California, San Francisco, n/a, San Francisco, 94143, USA

    Matthew M. LaVail

  2. University of Oklahoma Health Sciences C, Oklahoma City, 73104, USA

    John D. Ash

  3. Health Science Center, Dean A. McGee Eye Inst., University of Oklahoma, Stanton L. Young Blvd. 608, OKLAHOMA CITY, 73104, Oklahoma, USA

    Robert E. Anderson

  4. Division of Ophthalmology, Cole Eye Institute at the Cleveland Clin, Euclid Ave. 9500, Cleveland, 44195, Ohio, USA

    Joe G. Hollyfield

  5. Experimental Ophthalmology, University of Zurich, ZURICH, 8091, Switzerland

    Christian Grimm

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Stanton, C.M., Chalmers, K.J., Wright, A.F. (2012). The Chromosome 10q26 Susceptibility Locus in Age-Related Macular Degeneration. In: LaVail, M., Ash, J., Anderson, R., Hollyfield, J., Grimm, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 723. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-0631-0_47

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