Article
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
Human molecular genetics - 15 Dec 2018
Kuiper Jonas J W, Setten Jessica van, Devall Matthew, Cretu-Stancu Mircea, Hiddingh Sanne, Ophoff Roel A, Missotten Tom O A R, Velthoven Mirjam van, Den Hollander Anneke I, Hoyng Carel B, James Edward, Reeves Emma, Cordero-Coma Miguel, Fonollosa Alejandro, Adán Alfredo, Martín Javier, Koeleman Bobby P C, Boer Joke H de, Pulit Sara L, Márquez Ana, Radstake Timothy R D J
Abstract excerpt
Birdshot Uveitis (Birdshot) is a rare eye condition that affects HLA-A29-positive individuals and could be considered a prototypic member of the recently proposed 'MHC-I (major histocompatibility complex class I)-opathy' family. Genetic studies have pinpointed the endoplasmic reticulum aminopeptidase (ERAP1) and (ERAP2) genes as shared associations across MHC-I-opathies, which suggests ERAP dysfunction may be a...
Topics
- Aminopeptidases
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genotype
- HLA-A Antigens
- Haplotypes
- Humans
- Male