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

Publication ,  Journal Article
Grassmann, F; Heid, IM; Weber, BHF; International AMD Genomics Consortium (IAMDGC)
Published in: Genetics
February 2017

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.

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Published In

Genetics

DOI

EISSN

1943-2631

Publication Date

February 2017

Volume

205

Issue

2

Start / End Page

919 / 924

Location

United States

Related Subject Headings

  • Serine Endopeptidases
  • Proteins
  • Polymorphism, Genetic
  • Macular Degeneration
  • Humans
  • High-Temperature Requirement A Serine Peptidase 1
  • Haplotypes
  • Developmental Biology
  • Case-Control Studies
  • 3105 Genetics
 

Citation

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Grassmann, F., Heid, I. M., Weber, B. H. F., & International AMD Genomics Consortium (IAMDGC). (2017). Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. Genetics, 205(2), 919–924. https://doi.org/10.1534/genetics.116.195966
Grassmann, Felix, Iris M. Heid, Bernhard H. F. Weber, and International AMD Genomics Consortium (IAMDGC). “Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.Genetics 205, no. 2 (February 2017): 919–24. https://doi.org/10.1534/genetics.116.195966.
Grassmann F, Heid IM, Weber BHF, International AMD Genomics Consortium (IAMDGC). Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. Genetics. 2017 Feb;205(2):919–24.
Grassmann, Felix, et al. “Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.Genetics, vol. 205, no. 2, Feb. 2017, pp. 919–24. Pubmed, doi:10.1534/genetics.116.195966.
Grassmann F, Heid IM, Weber BHF, International AMD Genomics Consortium (IAMDGC). Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. Genetics. 2017 Feb;205(2):919–924.

Published In

Genetics

DOI

EISSN

1943-2631

Publication Date

February 2017

Volume

205

Issue

2

Start / End Page

919 / 924

Location

United States

Related Subject Headings

  • Serine Endopeptidases
  • Proteins
  • Polymorphism, Genetic
  • Macular Degeneration
  • Humans
  • High-Temperature Requirement A Serine Peptidase 1
  • Haplotypes
  • Developmental Biology
  • Case-Control Studies
  • 3105 Genetics