Authors
David Harvey, Jennifer J Pointon, David M Evans, Tugce Karaderi, Claire Farrar, Louise H Appleton, Roger D Sturrock, Millicent A Stone, Udo Oppermann, Matthew A Brown, B Paul Wordsworth
Publication date
2009/11/1
Journal
Human molecular genetics
Volume
18
Issue
21
Pages
4204-4212
Publisher
Oxford University Press
Description
A strong association between ERAP1 and ankylosing spondylitis (AS) was recently identified by the Wellcome Trust Case Control Consortium and the Australo-Anglo-American Spondylitis Consortium (WTCCC-TASC) study. ERAP1 is highly polymorphic with strong linkage disequilibrium evident across the gene. We therefore conducted a series of experiments to try to identify the primary genetic association(s) with ERAP1 . We replicated the original associations in an independent set of 730 patients and 1021 controls, resequenced ERAP1 to define the full extent of coding polymorphisms and tested all variants in additional association studies. The genetic association with ERAP1 was independently confirmed; the strongest association was with rs30187 in the replication set ( P = 3.4 × 10 −3 ). When the …
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Scholar articles
D Harvey, JJ Pointon, DM Evans, T Karaderi, C Farrar… - Human molecular genetics, 2009