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Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Scerri, TS; Quaglieri, A; Cai, C; Zernant, J; Matsunami, N; Baird, L; Scheppke, L; ... Bahlo, M; + view all (2017) Genome-wide analyses identify common variants associated with macular telangiectasia type 2. Nature Genetics 10.1038/ng.3799. Green open access

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Abstract

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10−8) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10−17; rs715 at 2q34, P = 9.97 × 10−14; rs477992 at 1p12, P = 2.60 × 10−12) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (P = 4.04 × 10−6) and serine (P = 2.48 × 10−4) between MacTel cases and controls.

Type: Article
Title: Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ng.3799
Publisher version: http://dx.doi.org/10.1038/ng.3799
Language: English
Additional information: © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Keywords: Diseases Genetics, research Genome-wide, association studies
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology > Institute of Ophthalmology - Cell Biology
URI: http://discovery.ucl.ac.uk/id/eprint/1545264
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