Abstract

The aim of this study was to investigate whether osteopontin (OPN) variants are associated with susceptibility to ankylosing spondylitis (AS) in a Chinese population. Polymorphisms at the 9175th position in exon 7 of OPN and rs17524488 were genotyped using direct sequencing in 186 unrelated AS patients and 188 ethnically matched healthy controls. Serum concentration of OPN was measured by enzyme-linked immunosorbent assay (ELISA) in all participants. AS patients displayed significantly higher OPN serum levels than the controls (P < 001). A heterozygous, novel 9175 T>A in exon 7 of the OPN gene was found in this study. In healthy controls, subjects carrying the rs17524488 G/G genotype of the OPN display significantly higher OPN serum levels than the GG/GG genotype (P < 0.05). Plasma OPN level is implicated as an early diagnostic marker of AS. The novel 9175th- (exon 7) position polymorphism of OPN and rs17524488 were related to susceptibility to AS in a Chinese population, the rs17524488 G/G genotype may be involved in the pathogenesis of AS, and the precise molecular mechanism underlying the influence of OPN polymorphisms on the development of AS remains to be determined in the further prospective studies.

Highlights

  • Ankylosing spondylitis (AS) is an autoimmune disease caused by chronic inflammation response and pathological mineralization and usually strikes the males [1, 2]

  • Overexpression of OPN has been described in several basic inflammatory processes, such as arthritis [23], myocardial remodeling after infarction [24], kidney interstitial fibrosis after obstructive uropathy [25], wound healing [26], and several types of cancer [27], where it is demonstrated that OPN gene polymorphism and OPN levels play important roles in immune- and inflammatorymediated diseases, including AS

  • Large sample study needs to be explored further. This case-control study revealed a strong relationship between the 9175th- position polymorphism of OPN or rs17524488 and AS patients, the precise molecular mechanism underlying the influence of OPN polymorphisms on the development of AS remains to be determined in further prospective studies

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Summary

Introduction

Ankylosing spondylitis (AS) is an autoimmune disease caused by chronic inflammation response and pathological mineralization and usually strikes the males [1, 2]. Many studies focus on the pathogenesis of AS, the etiology and mechanisms behind AS remain unclear

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