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首页> 外文期刊>Cytokine >Molecular screening and association study of IL15 gene polymorphisms in rheumatoid arthritis.
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Molecular screening and association study of IL15 gene polymorphisms in rheumatoid arthritis.

机译:类风湿关节炎IL15基因多态性的分子筛查和关联研究。

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摘要

Interleukin 15 (IL-15) is a pleiotropic pro-inflammatory cytokine known to play a relevant role in rheumatoid arthritis (RA) pathogenesis. In this study we aimed to investigate for the first time the contribution of IL15 gene to RA susceptibility. We screened 13 single nucleotide polymorphisms (SNPs) localised within IL15 regulatory regions (promoter, 5' UTR region and 3' UTR region) in a total of 420 individuals, who were genotyped by direct sequencing of PCR products. In addition, an association study of these IL15 SNPs was conducted in three independent case-control cohorts of Spanish Caucasian origin, including a total of 645 RA patients and 656 healthy controls. The presence of the 13 selected IL15 SNPs in our population was confirmed and no new genetic variants were found. The distribution of the IL15 selected SNPs in RA patients and controls showed no statistically significant deviation in any of the populations studied. Additionally, we performed a haplotype analysis that revealed three IL15 haplotype blocks. None of the haplotype blocks was associated with RA susceptibility or severity in the three cohorts analysed. Our results suggest that the IL15 gene polymorphisms do not appear to play a major role in RA genetic predisposition in our population.
机译:白介素15(IL-15)是一种多效性促炎细胞因子,已知在类风湿关节炎(RA)发病机理中起着相关作用。在这项研究中,我们旨在首次调查IL15基因对RA易感性的贡献。我们筛选了总共420个人的IL15调控区域(启动子,5'UTR区域和3'UTR区域)内的13个单核苷酸多态性(SNP),这些人通过PCR产物的直接测序进行了基因分型。此外,在三个独立的西班牙白人血统病例对照队列中对这些IL15 SNP进行了关联研究,包括总共645名RA患者和656名健康对照者。证实在我们的人群中存在13种选择的IL15 SNP,并且没有发现新的遗传变异。 IL15选择的SNP在RA患者和对照组中的分布在任何研究人群中均未显示统计学上的显着偏差。此外,我们进行了单倍型分析,揭示了三个IL15单倍型模块。在所分析的三个队列中,没有一个单体型障碍与RA易感性或严重性相关。我们的结果表明,IL15基因多态性在我们人群的RA遗传易感性中似乎没有发挥主要作用。

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