Grassmann, Felix and Heid, Iris M. and Weber, Bernhard H. F. (2017) Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. GENETICS, 205 (2). pp. 919-924. ISSN 0016-6731, 1943-2631
Full text not available from this repository. (Request a copy)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 x 10(-773) and 6.7 x 10(-5). This now allows prioritization of the gene of interest for subsequent functional studies.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CHROMOSOME 10Q26; MESSENGER-RNA; HTRA1; ARMS2; SUSCEPTIBILITY; VARIANTS; COMPLEMENT; LOC387715; IMPAIR; RISK; age-related macular degeneration; genetic association studies; linkage disequilibrium; haplotypes; ARMS2/HTRA1 gene locus |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:01 |
| Last Modified: | 27 Feb 2019 14:42 |
| URI: | https://pred.uni-regensburg.de/id/eprint/440 |
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