Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
Jonas J. W. Kuiper, Jessica van Setten, Matthew A.M. Devall, Mircea Cretu-Stancu, Sanne Hiddingh, Roel A. Ophoff, Tom Missotten, Mirjam E. J. van Velthoven, Anneke I. den Hollander, Carel B. Hoyng, Edward James, Emma Reeves, Miguel Cordero‐Coma, Alejandro Fonollosa, Alfredo Adán, , Timothy R. D. J. Radstake
This study identifies functionally distinct ERAP1 and ERAP2 haplotypes associated with Birdshot Uveitis and shows their combined effect enhances disease risk.
Human Molecular Genetics · Sep 10, 2018Peer-reviewedGenetics