PT - JOURNAL ARTICLE 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 TI - Association of an <em>ERAP1 ERAP2</em> haplotype with familial ankylosing spondylitis AID - 10.1136/ard.2008.103804 DP - 2010 Apr 01 TA - Annals of the Rheumatic Diseases PG - 733--736 VI - 69 IP - 4 4099 - http://ard.bmj.com/content/69/4/733.short 4100 - http://ard.bmj.com/content/69/4/733.full SO - Ann Rheum Dis2010 Apr 01; 69 AB - 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.