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.
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Funding This study was funded by grants from the Canadian Institutes of Health Research, the Arthritis Center of Excellence and by the NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases grants P01–052915-01 and R01-AR-46208 to Dr Reveille).
Patient consent Obtained.
Ethics approval The study was approved by the University Health Network Research Ethics Board and the Committee for the Protection of Human Subjects at the University of Texas Health Science Center, Houston.
Provenance and peer review Not commissioned; externally peer reviewed.