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

Melanie Bahlo and colleagues report a genome-wide association study on the retinal degenerative disease Macular Telangiectasia Type 2, identifying 8 new genome-wide significant loci. Further analyses suggest key roles for genes that transport and synthesize the amino acids serine, glycine and alanin...

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Autores principales: Roberto Bonelli, Victoria E. Jackson, Aravind Prasad, Jacob E. Munro, Samaneh Farashi, Tjebo F. C. Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, MacTel Consortium, Catherine A. Egan, Rando Allikmets, Brendan R. E. Ansell, Melanie Bahlo
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/9cba7a84572b4acc832cac9a6d05482a
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Sumario:Melanie Bahlo and colleagues report a genome-wide association study on the retinal degenerative disease Macular Telangiectasia Type 2, identifying 8 new genome-wide significant loci. Further analyses suggest key roles for genes that transport and synthesize the amino acids serine, glycine and alanine, providing a more accurate genomic tool for identifying people at risk of the disease.