Please use this identifier to cite or link to this item:
https://doi.org/10.1534/genetics.116.195966
DC Field | Value | |
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dc.title | Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration | |
dc.contributor.author | Grassmann, F | |
dc.contributor.author | Heid, I.M | |
dc.contributor.author | Weber, B.H.F | |
dc.contributor.author | International AMD Genomics Consortium (IAMDGC) | |
dc.date.accessioned | 2020-10-23T02:34:11Z | |
dc.date.available | 2020-10-23T02:34:11Z | |
dc.date.issued | 2017 | |
dc.identifier.citation | 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. ScholarBank@NUS Repository. https://doi.org/10.1534/genetics.116.195966 | |
dc.identifier.issn | 00166731 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/179232 | |
dc.description.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 10 × 10-773 and 6.7 × 10-5. This now allows prioritization of the gene of interest for subsequent functional studies. © 2017 Grassmann et al. | |
dc.publisher | Genetics Society of America | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20201031 | |
dc.subject | age related macular degeneration | |
dc.subject | ARMS2 gene | |
dc.subject | Article | |
dc.subject | chromosome 10q | |
dc.subject | controlled study | |
dc.subject | gene linkage disequilibrium | |
dc.subject | gene locus | |
dc.subject | genetic association | |
dc.subject | genetic recombination | |
dc.subject | genetic risk | |
dc.subject | genetic variation | |
dc.subject | haplotype | |
dc.subject | HTRA1 gene | |
dc.subject | human | |
dc.subject | marker gene | |
dc.subject | priority journal | |
dc.subject | case control study | |
dc.subject | genetic polymorphism | |
dc.subject | genetics | |
dc.subject | macular degeneration | |
dc.subject | ARMS2 protein, human | |
dc.subject | HtrA1 protein, human | |
dc.subject | protein | |
dc.subject | serine proteinase | |
dc.subject | Case-Control Studies | |
dc.subject | Haplotypes | |
dc.subject | Humans | |
dc.subject | Macular Degeneration | |
dc.subject | Polymorphism, Genetic | |
dc.subject | Proteins | |
dc.subject | Serine Endopeptidases | |
dc.type | Article | |
dc.contributor.department | DUKE-NUS MEDICAL SCHOOL | |
dc.description.doi | 10.1534/genetics.116.195966 | |
dc.description.sourcetitle | Genetics | |
dc.description.volume | 205 | |
dc.description.issue | 2 | |
dc.description.page | 919-924 | |
dc.published.state | Published | |
Appears in Collections: | Staff Publications Elements |
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