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

doi:10.1038/ng.3799

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Article

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

Nature genetics - 1 Apr 2017

Scerri Thomas S, Quaglieri Anna, Cai Carolyn, Zernant Jana, Matsunami Nori, Baird Lisa, Scheppke Lea, Bonelli Roberto, Yannuzzi Lawrence A, Friedlander Martin, Egan Catherine A, Fruttiger Marcus, Leppert Mark, Allikmets Rando, Bahlo Melanie

Abstract excerpt

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...

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PMID: 28250457
DOI: 10.1038/ng.3799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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