Article
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Human molecular genetics - 15 Nov 2014
Kuiper Jonas J W, Van Setten Jessica, Ripke Stephan, Van 'T Slot Ruben, Mulder Flip, Missotten Tom, Baarsma G Seerp, Francioli Laurent C, Pulit Sara L, De Kovel Carolien G F, Ten Dam-Van Loon Ninette, Den Hollander Anneke I, Huis in het Veld Paulien, Hoyng Carel B, Cordero-Coma Miguel, Martín Javier, Llorenç Victor, Arya Bharti, Thomas Dhanes, Bakker Steven C, Ophoff Roel A, Rothova Aniki, De Bakker Paul I W, Mutis Tuna, Koeleman Bobby P C
Abstract excerpt
Birdshot chorioretinopathy (BSCR) is a rare form of autoimmune uveitis that can lead to severe visual impairment. Intriguingly, >95% of cases carry the HLA-A29 allele, which defines the strongest documented HLA association for a human disease. We have conducted a genome-wide association study in 96 Dutch and 27 Spanish cases, and 398 unrelated Dutch and 380 Spanish controls. Fine-mapping the primary MHC...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.