Article
ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.
Proceedings of the National Academy of Sciences of the United States of America - 17 Jan 2017
Roberts Amity R, Appleton Louise H, Cortes Adrian, Vecellio Matteo, Lau Jonathan, Watts Laura, Brown Matthew A, Wordsworth Paul
Abstract excerpt
We investigated the proposal that ankylosing spondylitis (AS) is associated with unusual ERAP1 genotypes. ERAP1 haplotypes were constructed for 213 AS cases and 46 rheumatoid arthritis controls using family data. Haplotypes were generated from five common ERAP1 single nucleotide polymorphisms (SNPs)-rs2287987 (M349V), rs30187 (K528R), rs10050860 (D575N), rs17482078 (R725Q), and rs27044 (Q730E). Haplotype...