The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Albinism is a rare disorder often caused by high-effect rare variants in the TYR gene. Here, the authors study a large albinism cohort and find that a common variant in the TYR promoter contributes to albinism by modifying the penetrance of other common variants, demonstrating a complex genetic arch...

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Bibliographic Details
Main Authors: Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis
Format: Article
Language:English
Published: Nature Portfolio 2022-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-022-31392-3

Internet

https://doi.org/10.1038/s41467-022-31392-3

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