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伊朗内脏利什曼病患者 Toll 样受体 4(TLR4)多态性。

Toll-like receptor 4 (TLR4) polymorphisms in Iranian patients with visceral leishmaniasis.

机构信息

Department of Immunology, Professor Alborzi Clinical Microbiology Research Center, Shiraz University of Medical Sciences, 71937-11351, Shiraz, Iran.

出版信息

Mol Biol Rep. 2012 Dec;39(12):10795-802. doi: 10.1007/s11033-012-1973-5. Epub 2012 Oct 6.

Abstract

The role of Toll-like receptor (TLR) 4 in visceral leishmaniasis (VL), a disease caused by an obligate intracellular protozoan parasites belonging to the genus Leishmania, has been shown in the recent leishmaniasis experimental studies. As genetic host factors play an important role in the susceptibility and/or resistance to VL, the association between TLR4 gene mutations [A896G and C1196T single nucleotide polymorphisms (SNPs)] and VL was investigated. Genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) SNPs was performed in the patients with VL (N = 122) and ethnically matched controls (N = 155) using polymerase chain reaction-restriction fragment length polymorphism method. When VL patients and the controls were compared, no statistically significant differences were observed in A896G and C1196T alleles and genotypes (P > 0.05). The TLR4 A896G and C1196T were in moderate linkage disequilibrium in the controls and patients (r (2) = 0.497, 0.548 and D' = 0.705, 0.808, respectively), and haplotypes reconstructed from these SNPs were not significantly different between the aforementioned study groups. In conclusion, based on the results, TLR4 gene polymorphisms at the positions 896 and 1196 cannot be regarded as the major contributors to VL susceptibility among the Iranian population.

摘要

TLR4 在内脏利什曼病(VL)中的作用已在最近的利什曼病实验研究中得到证实,这种疾病是由属于利什曼属的专性细胞内原生动物寄生虫引起的。由于遗传宿主因素在对 VL 的易感性和/或抵抗力中起着重要作用,因此研究了 TLR4 基因突变[A896G 和 C1196T 单核苷酸多态性(SNPs)]与 VL 之间的关系。采用聚合酶链反应-限制性片段长度多态性方法对 VL 患者(N=122)和种族匹配的对照组(N=155)中的 A896G(天冬酰胺 299 甘氨酸)和 C1196T(苏氨酸 399 异亮氨酸)SNP 进行基因分型。当将 VL 患者与对照组进行比较时,A896G 和 C1196T 等位基因和基因型之间没有观察到统计学上的显著差异(P>0.05)。在对照组和患者中,TLR4 A896G 和 C1196T 存在中度连锁不平衡(r(2)=0.497、0.548 和 D'=0.705、0.808),并且从这些 SNP 重建的单体型在上述研究组之间没有显著差异。总之,根据研究结果,在伊朗人群中,TLR4 基因在位置 896 和 1196 的多态性不能被认为是 VL 易感性的主要因素。

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