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Article

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

Communications biology - 2 Mar 2021

Bonelli Roberto, Jackson Victoria E, Prasad Aravind, Munro Jacob E, Farashi Samaneh, Heeren Tjebo F C, Pontikos Nikolas, Scheppke Lea, Friedlander Martin, Egan Catherine A, Allikmets Rando, Ansell Brendan R E, Bahlo Melanie

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 < 5 × 10-8), and confirmed all three previously reported loci. Using MAGMA, eQTL and transcriptome-wide association analysis, we prioritised 48 genes...

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Identifiers

PMID: 33654266
DOI: 10.1038/s42003-021-01788-w
PMCID: PMC7925591

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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