MicroRNA Copy Number Variants Confer The Susceptibility To Acute Anterior Uveitis With Or Without Ankylosing Spondylitis

PurposeTo investigate the association of mi RNA copy number variants（CNVs）with acute anterior uveitis（AAU）with or without ankylosing spondylitis（AS）and to assess underlying disease mechanisms.MethodsThis study included 768 patients with AAU⁺AS⁺ or AAU⁺AS^-and 660 controls from a Chinese Han population.Genotyping of CNVs was performed by Taq Man PCR.The expression of mi RNAs,transfection efficiency of mi R^-9-3 and cytokine production were measured by real-time PCR,flow cytometry or ELISA.ResultsThe frequency of low copy numbers of mi R-143,mi R-146 a,mi R^-9-3 and mi R-205,and high copy numbers of mi R-301 a and mi R-23 a was increased in patients with AAU⁺AS⁺(P=3.725×10^-5 to 8.033×10^-9).Additionally,the frequency of a low copy number of mi R-146 a and a high copy number of mi R-23 a and mi R-205 was significantly increased in AAU^<sup>+AS^-patients（P=0.002 to 0.001）.The frequency of low copy number of mi R-205 was increased in AAU⁺AS⁺ compared with AAU⁺AS^-（P=0.001）.The m RNA expression of mi R^-9-3 was significantly decreased in patients with AAU⁺AS⁺ compared with controls and positively associated with its copy number.Additionally,the production of IL-1β and IL-6 was shown to be regulated by mi R^-9-3 in human primary retinal pigment epithelial（h RPE）cells.ConclusionLow gene copy numbers of mi R-143,mi R-146 a,mi R^-9-3,mi R-205 and high gene copy numbers of mi R-301 a,mi R-23 a are associated with susceptibility to AAU⁺AS⁺.A low copy number of mi R-146 a and a high copy number of mi R-23 a and mi R-205 are associated with AAU⁺AS^-.