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基因(rs3804099)中19216T/C单核苷酸多态性与黎巴嫩儿童感染的关联。

Association of the Single Nucleotide Polymorphism 19216T/C in the Gene (rs3804099) with Infection Among Lebanese Children.

作者信息

Dib Israa, Noureddine Hiba, Fakih Mohamad, Livet Alexandre, Alphonse Vanessa, Illayk Abbas, Medlej Abdallah Ahmad, Tarhini Mahdi, Bousserrhine Noureddine

机构信息

Laboratory of Water Environment and Urban Systems, University Paris-Est Créteil, Créteil Cedex, France.

Environmental Health Research Laboratory, Faculty of Sciences V, Lebanese University, Nabatieh, Lebanon.

出版信息

J Interferon Cytokine Res. 2024 Dec;44(12):550-556. doi: 10.1089/jir.2024.0183. Epub 2024 Oct 4.

Abstract

Toll-like receptors (TLRs), particularly the TLR2, take part in the elicitation of immune responses against . This study aimed to investigate the relationship between a specific polymorphism called rs3804099 in the gene and infection among Lebanese children. A case-control study encompassed 180 participants including 68 children with amebiasis and 112 matched controls. Blood samples were collected, and genomic DNA was extracted using the classical proteinase K digestion and phenol-chloroform extraction method. The variant rs3804099 was examined using the Amplification Refractory Mutation System Polymerase Chain Reaction. The accuracy of the genotyping was supported by sequencing 5% of samples. The rs3804099 polymorphism was identified in the studied population, and the observed genotypic distributions were consistent with equilibrium ( > 0.05). The frequency of the rare CC genotype was significantly higher in patients compared to the noninfected group ( < 0.01). In controls, the homozygous TT genotype was less frequent than the heterozygous CT genotype. The rare CC genotype was associated with a higher risk of amebiasis among children (odds ratios = 3.27, = 0.002). These findings provide evidence supporting the association between the rs3804099 SNP in the gene and infection among Lebanese children.

摘要

Toll样受体(TLRs),尤其是TLR2,参与引发针对……的免疫反应。本研究旨在调查……基因中一种名为rs3804099的特定多态性与黎巴嫩儿童……感染之间的关系。一项病例对照研究纳入了180名参与者,其中包括68名患阿米巴病的儿童和112名匹配的对照。采集血样,采用经典的蛋白酶K消化和酚-氯仿提取法提取基因组DNA。使用扩增阻滞突变系统聚合酶链反应检测rs3804099变体。通过对5%的样本进行测序来支持基因分型的准确性。在所研究的人群中鉴定出了rs3804099多态性,观察到的基因型分布符合……平衡(>0.05)。与未感染组相比,患者中罕见的CC基因型频率显著更高(<0.01)。在对照组中,纯合子TT基因型的频率低于杂合子CT基因型。罕见的CC基因型与儿童患阿米巴病的较高风险相关(优势比=3.27,=0.002)。这些发现提供了证据,支持……基因中的rs3804099单核苷酸多态性与黎巴嫩儿童……感染之间的关联。

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