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A polymorphism in ERAP1 is associated with susceptibility to ankylosing spondylitis in a Turkish population

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Abstract

We assessed the role played by the ERAP1 gene in Turkish patients with ankylosing spondylitis (AS) in terms of disease susceptibility, clinical manifestations, and disease severity. We included 150 consecutive AS patients who met the modified New York classification criteria and 150 healthy controls. We documented the presence of 10 ERAP1 single-nucleotide polymorphisms (SNPs) and HLA-B27 in these patients. ERAP1 SNPs were genotyped using competitive allele-specific polymerase chain reaction. Differences between genotype and allele frequencies were compared using the Pearson’s Chi-square test. The associations between ERAP1 SNPs, on the one hand, and with disease severity and clinical findings, on the other, were determined. One SNP, rs26653, was significantly associated with AS susceptibility (OR 1.609, 95 % CI 1.163–2.226; p = 0.004). The population-attributable risk of possession of the rs26653 SNP allele was 23.4 %. No relationship was noted between HLA-B27 positivity and the distribution of rs26653 genotype frequency. No associations were seen between disease severity measures and clinical manifestations of AS. In summary, an ERAP1 polymorphism was associated with AS in a Turkish population. The contributions of HLA-B27 and the rs26653 SNP to AS pathogenesis appear to be independent.

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Acknowledgments

We wish to thank the patients and controls for providing blood samples, and our colleagues Associate Professor Umut Kalyoncu and MD Ulas Yakut for their assistance. This work was supported by Turkish Society of Rheumatology (Project AD-2011/99).

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Authors and Affiliations

  1. Division of Rheumatology, Gulhane Military Medical Academy School of Medicine, Gn.Tevfik Sağlam Cad., 06018, Etlik, Ankara, Turkey

    Muhammet Cinar, Sedat Yilmaz, Ismail Simsek, Hakan Erdem & Salih Pay

  2. Department of Medical Genetics, Gulhane Military Medical Academy School of Medicine, Ankara, Turkey

    Hatice Akar, Mutlu Karkucak & Yusuf Tunca

  3. Department of Allergy and Immunology, Gulhane Military Medical Academy School of Medicine, Ankara, Turkey

    Rahsan Ilıkci Sagkan, Aysel Pekel & Ugur Musabak

  4. Department of Blood Bank and Blood Education Center, Gulhane Military Medical Academy School of Medicine, Ankara, Turkey

    Ismail Yasar Avci

  5. Department of Biostatistics, Gulhane Military Medical Academy School of Medicine, Ankara, Turkey

    Cengizhan Acikel

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  1. Muhammet Cinar
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Correspondence to Muhammet Cinar.

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Cinar, M., Akar, H., Yilmaz, S. et al. A polymorphism in ERAP1 is associated with susceptibility to ankylosing spondylitis in a Turkish population. Rheumatol Int 33, 2851–2858 (2013). https://doi.org/10.1007/s00296-013-2824-y

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