Communications Biology (Mar 2021)

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

  • 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

DOI
https://doi.org/10.1038/s42003-021-01788-w
Journal volume & issue
Vol. 4, no. 1
pp. 1 – 14

Abstract

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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.