Association of ERAP1, IL23R and PTGER4 Polymorphisms with Radiographic Severity of Ankylosing Spondylitis



Gulsen Ozen1, *, Rabia Deniz2, Fatih Eren3, Can Erzik3, Ali Ugur Unal1, Sule Yavuz4, Sibel Zehra Aydin5, Nevsun Inanc1, Haner Direskeneli1, Pamir Atagunduz1
1 Department of Rheumatology, Faculty of Medicine, Marmara University, Istanbul, Turkey
2 Department of Internal Medicine, Faculty of Medicine, Marmara University, Istanbul, Turkey
3 Department of Medical Biology, Faculty of Medicine, Marmara University, Istanbul, Turkey
4 Department of Rheumatology, Faculty of Medicine, Bilim University, Istanbul, Turkey
5 Department of Rheumatology, School of Medicine, Ottawa University, Ottawa, Ontario, Canada


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© Ozen et al.; Licensee Bentham Open

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution-Non-Commercial 4.0 International Public License (CC BY-NC 4.0) (https://creativecommons.org/licenses/by-nc/4.0/legalcode), which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Department of Rheumatology, Faculty of Medicine, Marmara University, Mimar Sinan Caddesi, No:41, Pendik, 34899, Istanbul, Turkey; Tel: +90 505 668 06 78; Fax: 0212 3438385; E-mail: ozengs@yahoo.com


Abstract

Background:

Radiographic severity of ankylosing spondylitis (AS) shows such great variance that some patients never develop syndesmophytes throughout the entire disease span, whereas some develop bamboo spine relatively early.

Objective:

To study the association between ERAP1, IL23R and PTGER4 single nucleotide polymorphisms (SNPs) and radiographic severity in AS patients.

Methods:

rs27044 and rs30187 (ERAP1), rs11209032 (IL23R) and rs10440635 (PTGER4) SNPs were genotyped in 235 AS patients fulfilling the modified New York criteria. Patients were classified as mild- and severe-AS according to modified Stoke AS spinal score (mSASSS). Mild-AS is defined as having mSASSS of “0” following at least 10 years of disease duration. Severe-AS is defined as having mSASSS of >20 (patients with mild vertebral changes (i.e. squaring or erosions) were omitted for clear stratification) regardless of disease duration.

Results:

The genotype distributions and allele frequencies of ERAP1 rs27044 and rs30187, IL23R rs11209032 and PTGER4 rs10440635 SNPs were similar in mild- (n=171, mSASSS=0, 55.6% HLA-B27 positive) and severe-AS patients (n=64, mSASSS=48.5±17.8, 73.4% HLA-B27 positive). After adjustment for clinical differences between groups (gender, disease duration, HLA-B27 and smoking status) by logistic regression analysis, none of the alleles in the investigated SNPs were found to be associated with radiographic severity of AS.

Conclusion:

In radiographically well-categorized AS patients, ERAP1 rs27044 and rs30187, IL23R rs11209032 and PTGER4 rs10440635 SNPs are not found to be associated with radiographic severity of AS.

Keywords: Ankylosing spondylitis, radiographic severity, ERAP1, IL23R, PTGER4.