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
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Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/9cba7a84572b4acc832cac9a6d05482a
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spelling oai:doaj.org-article:9cba7a84572b4acc832cac9a6d05482a2021-12-02T13:33:44ZIdentification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder10.1038/s42003-021-01788-w2399-3642https://doaj.org/article/9cba7a84572b4acc832cac9a6d05482a2021-03-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-01788-whttps://doaj.org/toc/2399-3642Melanie 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.Roberto BonelliVictoria E. JacksonAravind PrasadJacob E. MunroSamaneh FarashiTjebo F. C. HeerenNikolas PontikosLea ScheppkeMartin FriedlanderMacTel ConsortiumCatherine A. EganRando AllikmetsBrendan R. E. AnsellMelanie BahloNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-14 (2021)
institution DOAJ
collection DOAJ
language EN
topic Biology (General)
QH301-705.5
spellingShingle Biology (General)
QH301-705.5
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
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
description 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.
format article
author 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
author_facet 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
author_sort Roberto Bonelli
title Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
title_short Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
title_full Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
title_fullStr Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
title_full_unstemmed Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder
title_sort identification of genetic factors influencing metabolic dysregulation and retinal support for mactel, a retinal disorder
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/9cba7a84572b4acc832cac9a6d05482a
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