Article Text

other Versions

PDF
Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis
  1. Florence W L Tsui (ftsui{at}uhnres.utoronto.ca)
  1. Toronto Western Research Institute, Canada
    1. Nigil Haroon (nigil.haroon{at}uhn.on.ca)
    1. Toronto Western Research Institute, Canada
      1. John D Reveille (john.d.reveille{at}uth.tmc.edu)
      1. University Texas, United States
        1. Proton Rahman (prahman{at}morgan.ucs.mun.ca)
        1. Memorial University, Canada
          1. Basil Chiu (bchiu{at}uhnres.utoronto.ca)
          1. Toronto Western Research Institute, Canada
            1. Hing Wo Tsui (htsui{at}uhnres.utoronto.ca)
            1. Toronto Western Research Institute, Canada
              1. Robert D Inman (robert.inman{at}uhn.on.ca)
              1. Toronto Western Hospital, Canada

                Abstract

                Objectives: We assessed whether there is excess transmission of alleles from the ERAP1 ERAP2 locus in ankylosing spondylitis (AS) families.

                Methods: We genotyped 199 multiplex AS families with four non-synonymous SNPs: three in the ERAP1 gene (endoplasmic reticulum aminopeptidase 1; rs27044, rs10050860 and rs30187) and one in the ERAP2 gene (endoplasmic reticulum aminopeptidase 2; rs2549782) and performed family-based association analyses.

                Results: Family-Based Association Testing (FBAT –e; empirical variance option) analysis revealed 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 loci (rs27044[G] rs30187[T] rs2549782[T]) was significantly associated with AS (2-sided P value by permutation test: 0.009 for additive and 0.008 for dominant model respectively).

                Conclusion: We showed that one ERAP1 SNP and a haplotype in the ERAP1 and ERAP2 locus are associated with familial AS.

                Statistics from Altmetric.com

                • Web Only Data ard.2008.103804

                  Files in this Data Supplement:

                Request permissions

                If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.