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Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese

机译:汉语中JAK-STAT信号通路基因遗传多态性与汉族急性前葡萄膜炎之间的关联缺乏关联

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Purpose. This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population. Methods. Eleven SNPs of the JAK1, JAK2, STAT1, IRF1, and NOS2 genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan~? probe assay. The Chi-squared (χ2) test and multivariate logistic regression analysis were used to compare the distributions of alleles and genotypes between patients and controls. P values were adjusted using Bonferroni correction. Results. We did not observe significant differences in the genotype and allele frequencies of any SNP between AAU patients with or without AS and healthy controls. Stratification analyses by gender and HLA-B27 status showed a boundary significant association between two SNPs (rs10975003 and rs10758669) in JAK2 and AAU (P = 0.052 and P = 0.053, resp.). Conclusions. Our results indicated that genetic polymorphisms of the JAK-STAT signaling pathway genes may not be associated with AAU in the Han Chinese population.
机译:目的。本研究旨在探讨汉克斯统计通知途径基因的单一核苷酸多态性(SNP)与汉族人群中脊柱炎(AS)的单一核苷酸多态性(SNP)与急性前葡萄炎(AAU)之间的关联。方法。在443名AAU患者中,分析了jak1,jak2,stat1,IRF1和NOS2基因的11,jak1,jak2,stat1,IRF1和NOS2基因,486名AAU患者,486名没有患者和714名健康对照。基因分型通过PCR-RFLP测定或Taqman进行〜?探针测定。 Chi-Squared(χ2)测试和多变量逻辑回归分析用于比较患者和对照之间的等位基因和基因型的分布。使用Bonferroni校正调整P值。结果。我们没有观察到AAU与患者的任何SNP基因型和等位基因频率的显着差异。性别和HLA-B27状态的分层分析显示了JAK2和AAU中的两个SNP(RS10975003和RS10758669)之间的边界显着关联(P = 0.052和P = 0.053,RES)。结论。我们的结果表明,JAK-STAT信令途径基因的遗传多态性可能与汉族人口中的AAU无关。

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