Article

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

2020-08-04

Abstract excerpt

Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a genome-wide association study on 1,067 MacTel patients and 3,799 controls, which identified eight novel genome-wide significant loci (p<5E-8), and confirmed all three previously reported loci. Using MAGMA, eQTL and transcriptome-wide association analysis, we prioritised 48 genes implicate...

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Literature Corpus work: 6228e35b-af55-50d7-8891-131a6d77e9f0
DOI: 10.1101/2020.08.02.20161117

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