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

  • Chloe M. StantonEmail author
  • Kevin J. Chalmers
  • Alan F. Wright
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 723)


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.


Age-related macular degeneration HTRA1 ARMS2 Chromosome 10 Protease Extracellular matrix TGF-beta 


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Chloe M. Stanton
    • 1
    Email author
  • Kevin J. Chalmers
    • 1
  • Alan F. Wright
    • 1
  1. 1.MRC Human Genetics UnitInstitute of Genetics and Molecular Medicine, Western General HospitalEdinburghUK

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