Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

Journal Article (Journal Article)

Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies, triggered by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously over a chromosomal region in 10q26 harboring two genes, ARMS2 and HTRA1, although with little knowledge as to which gene or genetic variation is functionally relevant to AMD pathology. In this study, we analyzed rare recombinant haplotypes in 16,144 AMD cases and 17,832 controls from the International AMD Genomics Consortium and identified variants in ARMS2 but not HTRA1 to exclusively carry the AMD risk with P-values between 1.0 × 10-773 and 6.7 × 10-5 This now allows prioritization of the gene of interest for subsequent functional studies.

Full Text

Duke Authors

Cited Authors

  • Grassmann, F; Heid, IM; Weber, BHF; International AMD Genomics Consortium (IAMDGC),

Published Date

  • February 2017

Published In

Volume / Issue

  • 205 / 2

Start / End Page

  • 919 - 924

PubMed ID

  • 27879347

Pubmed Central ID

  • PMC5289859

Electronic International Standard Serial Number (EISSN)

  • 1943-2631

Digital Object Identifier (DOI)

  • 10.1534/genetics.116.195966


  • eng

Conference Location

  • United States