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墨西哥c.1135G>A、c.1993A>G、c.2059T>C基因变异分析及其与潜伏性结核感染的关系。

Analysis of the c.1135G > A, c.1993A > G, c.2059T > C gene variants and their relationship with latent tuberculosis infection in Mexico.

作者信息

Cazarez-Navarro Gerardo, Hernández-Cañaveral Ivan, Colima-Fausto Ana Gabriela, Palomares-Marín Jaime, Licona-Lasteros Karel, Pereira-Suarez Ana Laura, Rodríguez-Preciado Sergio Yair

机构信息

Secretaria de Salud Jalisco, Guadalajara, Jalisco, México, Dr. Baeza Alzaga 107, Zona Centro, Guadalajara 44100, Jalisco, México.

Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 950, Independencia Oriente, Guadalajara 44340, Jalisco, México.

出版信息

J Clin Tuberc Other Mycobact Dis. 2024 Nov 26;37:100501. doi: 10.1016/j.jctube.2024.100501. eCollection 2024 Dec.

Abstract

Tuberculosis (TB) is a worldwide public health problem with 10.6 million people falling ill and 1.5 million deaths every year. Latent tuberculosis infection (LTBI) is a condition in which an individual has been infected with () but does not show clinical signs and symptoms. The transporter associated with antigen processing (TAP2) protein plays a fundamental role in the immune response promoting the clearance of intracellular pathogens, such as . Our study aimed to determine the association between c.1135G > A (rs1800454), c.1993A > G (rs241447) and c.2059 T > C (rs241448) gene variants with LTBI susceptibility. In this case-control study, 180 individuals (90 were LTBI-positive and 90 were controls) from shelters were analyzed. Genotyping of the polymorphisms was performed using the Applied Biosystems Step One Thermal Cycler Real-Time PCR allelic discrimination technology. The haplotypic analyses were performed with the Arlequin 3.5 software. The G allele (OR = 1.732, CI = 1.125-2.667,  = 0.012) and AG genotype of the c.1993A > G variant (=<0.001) were associated with susceptibility to LTBI (=<0.001), as well as the GAT, AAT, AAC, AGT haplotypes (=<0.001). The c.1135G > A and c.2059 T > C variants were not associated with LTBI risk.

摘要

结核病是一个全球性的公共卫生问题,每年有1060万人患病,150万人死亡。潜伏性结核感染(LTBI)是指个体已感染()但未表现出临床症状和体征的一种情况。与抗原加工相关的转运体(TAP2)蛋白在促进清除细胞内病原体(如)的免疫反应中起重要作用。我们的研究旨在确定c.1135G>A(rs1800454)、c.1993A>G(rs241447)和c.2059T>C(rs241448)基因变异与LTBI易感性之间的关联。在这项病例对照研究中,分析了来自收容所的180名个体(90名LTBI阳性和90名对照)。使用Applied Biosystems Step One Thermal Cycler实时荧光定量PCR等位基因鉴别技术对多态性进行基因分型。使用Arlequin 3.5软件进行单倍型分析。c.1993A>G变异的G等位基因(OR=1.732,CI=1.125-2.667,=0.012)和AG基因型(=<0.001)与LTBI易感性相关(=<0.001),以及GAT、AAT、AAC、AGT单倍型(=<0.001)。c.1135G>A和c.2059T>C变异与LTBI风险无关。

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