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AMD and the alternative complement pathway: genetics and functional implications.

Publication ,  Journal Article
Tan, PL; Bowes Rickman, C; Katsanis, N
Published in: Hum Genomics
June 21, 2016

Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized by the progressive breakdown of the macula (the central region of the retina), resulting in the loss of central vision including visual acuity. While its molecular etiology remains unclear, advances in genetics and genomics have illuminated the genetic architecture of the disease and have generated attractive pathomechanistic hypotheses. Here, we review the genetic architecture of AMD, considering the contribution of both common and rare alleles to susceptibility, and we explore the possible mechanistic links between photoreceptor degeneration and the alternative complement pathway, a cascade that has emerged as the most potent genetic driver of this disorder.

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Published In

Hum Genomics

DOI

EISSN

1479-7364

Publication Date

June 21, 2016

Volume

10

Issue

1

Start / End Page

23

Location

England

Related Subject Headings

  • Risk Factors
  • Mutation
  • Macular Degeneration
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Complement Pathway, Alternative
  • Animals
  • 3105 Genetics
 

Citation

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Tan, P. L., Bowes Rickman, C., & Katsanis, N. (2016). AMD and the alternative complement pathway: genetics and functional implications. Hum Genomics, 10(1), 23. https://doi.org/10.1186/s40246-016-0079-x
Tan, Perciliz L., Catherine Bowes Rickman, and Nicholas Katsanis. “AMD and the alternative complement pathway: genetics and functional implications.Hum Genomics 10, no. 1 (June 21, 2016): 23. https://doi.org/10.1186/s40246-016-0079-x.
Tan PL, Bowes Rickman C, Katsanis N. AMD and the alternative complement pathway: genetics and functional implications. Hum Genomics. 2016 Jun 21;10(1):23.
Tan, Perciliz L., et al. “AMD and the alternative complement pathway: genetics and functional implications.Hum Genomics, vol. 10, no. 1, June 2016, p. 23. Pubmed, doi:10.1186/s40246-016-0079-x.
Tan PL, Bowes Rickman C, Katsanis N. AMD and the alternative complement pathway: genetics and functional implications. Hum Genomics. 2016 Jun 21;10(1):23.
Journal cover image

Published In

Hum Genomics

DOI

EISSN

1479-7364

Publication Date

June 21, 2016

Volume

10

Issue

1

Start / End Page

23

Location

England

Related Subject Headings

  • Risk Factors
  • Mutation
  • Macular Degeneration
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Complement Pathway, Alternative
  • Animals
  • 3105 Genetics