TY - JOUR T1 - Association of an <em>ERAP1 ERAP2</em> haplotype with familial ankylosing spondylitis JF - Annals of the Rheumatic Diseases JO - Ann Rheum Dis SP - 733 LP - 736 DO - 10.1136/ard.2008.103804 VL - 69 IS - 4 AU - Florence W L Tsui AU - Nigil Haroon AU - John D Reveille AU - Proton Rahman AU - Basil Chiu AU - Hing Wo Tsui AU - Robert D Inman Y1 - 2010/04/01 UR - http://ard.bmj.com/content/69/4/733.abstract N2 - Objectives To assess whether there is excess transmission of alleles from the ERAP1 ERAP2 locus in families with ankylosing spondylitis (AS). Methods 199 multiplex families with AS with four non-synonymous single nucleotide polymorphisms (SNPs), three in the endoplasmic reticulum aminopeptidase 1 (ERAP1) gene (rs27044, rs10050860 and rs30187) and one in the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene (rs2549782), were genotyped and family-based association analyses were performed. Results Family-based association testing (FBAT –e; empirical variance option) analysis showed that ERAP1 rs30187[T] was associated with AS (additive model: p=0.02; dominant model: p=0.007). Haplotype permutation tests (HBAT-p) showed that a haplotype in the ERAP1 and ERAP2 locus (rs27044[G] rs30187[T] rs2549782[T]) was significantly associated with AS (two-sided p value by permutation test 0.009 for additive and 0.008 for dominant model, respectively). Conclusion This study shows that one ERAP1 SNP and a haplotype in the ERAP1 and ERAP2 locus are associated with familial AS. ER -