Grassmann, F;
Heid, IM;
Weber, BHF;
International AMD Genomics Consortium (IAMDGC);
(2017)
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.
Genetics
, 205
(2)
pp. 919-924.
10.1534/genetics.116.195966.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1534/genetics.116.195966 |
| Publisher version: | https://doi.org/10.1534/genetics.116.195966 |
| Language: | English |
| Additional information: | Copyright © 2017 Grassmann et al. Available freely online through the author-supported open access option. This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | ARMS2/HTRA1 gene locus, age-related macular degeneration, genetic association studies, haplotypes, linkage disequilibrium, Case-Control Studies, Haplotypes, High-Temperature Requirement A Serine Peptidase 1, Humans, Macular Degeneration, Polymorphism, Genetic, Proteins, Serine Endopeptidases |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10054217 |
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