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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:汉族人群JAK-STAT信号通路基因多态性与急性前葡萄膜炎缺乏相关性

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摘要

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 (χ 2) 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。这项研究旨在调查汉族人群中JAK-STAT信号通路基因的单核苷酸多态性(SNP)与有或没有强直性脊柱炎(AS)的急性前葡萄膜炎(AAU)之间的关系。方法。在443例患有AS的AAU患者,486例没有AS的AAU患者和714例健康对照中分析了JAK1,JAK2,STAT1,IRF1和NOS2基因的11个SNP。通过PCR-RFLP测定或探针测定进行基因分型。卡方检验(χ 2 )和多因素logistic回归分析用于比较患者和对照组之间等位基因和基因型的分布。使用Bonferroni校正来调整P值。结果。我们没有观察到在有或没有AS的AAU患者与健康对照之间,任何SNP的基因型和等位基因频率没有显着差异。根据性别和HLA-B27状况进行的分层分析显示,JAK2和AAU中的两个SNP(rs10975003和rs10758669)之间存在边界显着关联(分别为P = 0.052和P = 0.053)。结论。我们的结果表明,在汉族人群中,JAK-STAT信号通路基因的遗传多态性可能与AAU无关。

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