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首页> 外文期刊>International journal of immunogenetics >Association of tumour necrosis factor-alpha G/A-238 and G/A-308 single nucleotide polymorphisms with juvenile idiopathic arthritis
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Association of tumour necrosis factor-alpha G/A-238 and G/A-308 single nucleotide polymorphisms with juvenile idiopathic arthritis

机译：肿瘤坏死因子-αG / A-238和G / A-308单核苷酸多态性与青少年特发性关节炎的关系

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摘要

Juvenile idiopathic arthritis (JIA) is a heterogeneous autoimmune disorder of unknown origin. As proinflammatory cytokines are known to contribute towards the pathogenesis of JIA, this case-control study was performed to examine the associations of certain single nucleotide polymorphisms (SNPs) of tumour necrosis factor-alpha (TNF-alpha) gene. Fifty-three patients with JIA participated in this study as patients group and compared with 137 healthy unrelated controls. Genotyping was performed for TNF-alpha gene at positions -308 and -238, using polymerase chain reaction with sequence-specific primers method. Results of the analysed data revealed a significant positive association for TNF-alpha gene at positions -308 and -238 for A allele in patients group compared with controls (P < 0.01). At the genotypic level, the frequency of TNF-alpha gene at positions -308 and -238 for GG genotype was discovered to be higher in the patients with JIA compared to the healthy controls (P < 0.01), while GA genotype at the same positions was observed to be less frequent in the case group than the controls (P < 0.01). At the haplotypic level, a significant positive association for TNF-alpha GG haplotype (positions -308, -238) together with a notable negative association for TNF-alpha AG and GA haplotypes at the same positions were detected in the patients group in comparison with the healthy individuals (P < 0.01). Cytokine gene polymorphisms might affect the development of JIA. Particular TNF-alpha gene variants could render individuals more susceptible to JIA.
机译：青少年特发性关节炎（JIA）是一种来源不明的异质性自身免疫性疾病。由于已知促炎细胞因子与JIA的发病机理有关，因此进行了本病例对照研究，以检查肿瘤坏死因子-α（TNF-α）基因的某些单核苷酸多态性（SNP）的关联。 53例JIA患者作为患者组参加了本研究，并与137名健康无关对照进行了比较。使用聚合酶链反应和序列特异性引物方法对-308和-238位的TNF-α基因进行基因分型。分析数据的结果显示，与对照组相比，患者组A等位基因在-308和-238位的TNF-α基因显着正相关（P <0.01）。在基因型水平上，与健康对照组相比，JIA患者中GG基因型在-308和-238位的TNF-α基因频率更高（P <0.01），而GA基因型在相同位置在病例组中观察到的频率低于对照组（P <0.01）。在单倍型水平上，与对照组相比，在患者组中检测到了TNF-αGG单倍型（-308，-238位）的显着正相关以及在相同位置的TNF-αAG和GA单倍型的显着负相关。健康个体（P <0.01）。细胞因子基因多态性可能影响JIA的发展。特定的TNF-α基因变异可能会使个体更容易感染JIA。

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