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

Autor: 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
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
Druh dokumentu: article
ISSN: 2399-3642
DOI: 10.1038/s42003-021-01788-w
Popis: 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.
Databáze: Directory of Open Access Journals
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