Articles signed on Romanian Journal of RHEUMATOLOGY:

ERAP1 GENE POLYMORPHISMS INFLUENCE THE CLINICAL CHARACTERISTICS OF ANKYLOSING SPONDYLITIS

Romanian Journal of Rheumatology, Volume XXIV, No. 2, 2015

ISSN 1843-0791 | e-ISSN 2069-6086
ISSN-L 1843-0791
DOI: 10.37897/RJR

National Awards “Science and Research”

NEW! RJR has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

Marius Cherciu, Luis Ovidiu Popa, Mihai Bojinca, Monica Irina Dutescu, Violeta Bojinca, Teodora Serban, Constantin Bara and Olivia Mihaela Popa

ABSTRACT

Objective. Our aim was to investigate whether two ERAP1 gene variants, rs30187 and rs27044, influence the clinical characteristics of ankylosing spondylitis (AS) (the age of onset and the type of articular manifestations - axial or mixed) in Romanian patients.

Methods. We studied 94 AS patients and 139 healthy controls. The method used for genotyping the two nonsynonymous single nucleotide polymorphisms (SNPs) was real-time polymerase chain reaction. Association tests were carried out using PLINK 1.07 software. We analyzed separately the subgroups of AS patients with early onset (age <30 years) and late onset (age > 30 years), as well as the subgroups of patients with axial manifestations and mixed manifestations (axial and peripheral).

Results. Significant association between ERAP1 polymorphisms and AS is only present for patients who experienced an early onset (p = 0.04 for rs30187 and p = 0.007 for rs27044) and not for those with late onset (p = 0.32 for rs30187 and p = 0.29 for rs27044). Polymorphism rs30187 is associated only with the axial form of AS (p = 0.02), while rs27044 is associated only with the mixed form of the disease (p = 0.02)

Conclusions. Our findings demonstrate a consistent association between the studied ERAP1 gene SNPs and certain phenotypic characteristics of AS, suggesting that these gene variants may influence the AS onset and the presence of axial or mixed manifestations of AS.

Keywords: ERAP1, ankylosing spondylitis, single nucleotide polymorphisms (SNPs), age of onset, clinical characteristics

Full text | PDF