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A synonymous mutation in NOD2 gene was significantly associated with non-specific digestive disorder in rabbit

机译:NOD2基因的同义突变与家兔的非特异性消化系统疾病显着相关

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Nucleotide-binding oligomerization domain containing 2 (NOD2) plays a pivotal role in the host innate and adaptive immunity by recognizing the pathogenic agents. Therefore, its genetic polymorphisms and association with susceptibility to infectious diseases have been widely reported in human and farm animals. In the present study, we investigated the genetic polymorphisms in 3171. bp coding region of NOD2 gene and association with non-specific digestive disorder (NSDD) in rabbit. A total of four coding single-nucleotide polymorphisms (cSNPs) were detected. Among them, c.2961C>T was further genotyped for case (n = 176) and control (n = 130) based on association analysis, which revealed that C allele carried the potential protective role for susceptibility to NSDD with the odds ratio (OR) values of 0.52 (95% confidence interval (CI) 0.37-0.73, P< 0.01). Under the dominant inheritance model, CC genotype was associated with decreased susceptibility to NSDD (OR = 0.38, 95% CI 0.24-0.60, P< 0.01). Along with the aggravation of NSDD, we observed higher mRNA expression of NOD2 gene (P< 0.05). However, the mRNA expression pattern of CC genotype would be interacted by the different status of NSDD, which only showed the significantly increased level in severe NSDD group (P< 0.05). These results revealed by genetic association and gene expression analysis suggested that the NOD2 gene was associated with the susceptibility to NSDD in rabbit. However, the causative mutations linked to c.2961C>T and corresponding functional depiction should be further explored by performing exhaustive genetic studies. ? 2012 Elsevier B.V.
机译:通过识别病原体,含有2(NOD2)的核苷酸结合寡聚结构域在宿主固有免疫和适应性免疫中起着关键作用。因此,在人类和农场动物中广泛报道了其遗传多态性以及与传染病易感性的关系。在本研究中,我们调查了家兔NOD2基因3171. bp编码区的遗传多态性及其与非特异性消化系统疾病(NSDD)的关系。总共检测到四个编码单核苷酸多态性(cSNPs)。其中,基于关联分析,进一步对病例(n = 176)和对照(n = 130)进行了基因分型c.2961C> T,这表明C等位基因具有比值比(OR)对NSDD易感性的潜在保护作用。 )值0.52(95%置信区间(CI)0.37-0.73,P <0.01)。在优势遗传模型下,CC基因型与对NSDD的易感性降低相关(OR = 0.38,95%CI 0.24-0.60,P <0.01)。随着NSDD的加重,我们观察到NOD2基因的mRNA表达更高(P <0.05)。然而,CC基因型的mRNA表达模式会受到NSDD不同状态的相互作用,仅在重度NSDD组中表达水平显着升高(P <0.05)。通过遗传关联和基因表达分析揭示的这些结果表明,NOD2基因与家兔对NSDD的易感性有关。然而,应通过详尽的遗传研究进一步探索与c.2961C> T相关的致病突变和相应的功能描述。 ? 2012年Elsevier B.V.

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