震颤-1 基因中的 rs2234246 多态性是否与巴西亚马孙流行区的间日疟原虫感染者的临床病程有关?

IF 3 4区 医学 Q2 INFECTIOUS DISEASES Brazilian Journal of Infectious Diseases Pub Date : 2024-11-01 DOI:10.1016/j.bjid.2024.104398
Marcelo Cerilo-Filho , Myrela Conceição Santos de Jesus , Rubens A.O. Menezes , Marrara Pereira Sampaio , José Rodrigo S. Silva , Tatiana R. Moura , Luciane M. Storti-Melo , Ricardo Luiz Dantas Machado
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引用次数: 0

摘要

导言间日疟原虫是世界上分布最广的疟疾种类。在巴西,约 90% 的疟疾病例都是由这种寄生虫引起的。间日疟原虫感染可引起多种症状,如发烧、寒战、头痛、恶心、呕吐和贫血。免疫反应直接影响个体的临床演变。TREM-1 受体是一种重要的分子,它能识别病原体并扩大炎症反应。我们研究了 TREM-1 基因中的 SNP rs2234246(C>T)与巴西亚马逊地区感染间日疟原虫的患者出现恶心和呕吐之间的关系。方法 我们分析了来自巴西阿马帕州与法属圭亚那交界处的奥亚波克市的 76 名经显微镜和分子诊断为间日疟原虫的患者和 114 名对照者。这些人的临床症状由一名护士进行评估。从血液样本中提取基因组 DNA,并通过 qPCR 对 SNP rs2234246 进行基因分型。利用 Logistic 回归对恶心和呕吐症状的发生率进行了调整。贫血症发生率、性别、年龄、在研究地区的居住时间、以前疟疾发作次数和最后一次疟疾的时间等变量被作为逻辑回归的调整变量。所有分析均以 5%的显著性水平进行。在 SNP rs2234246 基因分型中,CC = 15,CT = 42,TT = 19。在该 SNP 与症状的关联方面,观察到 TREM-1 rs2234246 C>T SNP 的 TT 突变基因型感染者出现恶心和呕吐的几率比野生型 CC 感染者低 90%(OR = 0.1; 95% CI = 0.0 - 0.6; p = 0.013)。这些症状的发病风险降低,可能有助于深入了解所研究人群中人类寄生虫与宿主的关系,这可能表明同型突变等位基因(TT)可能具有保护作用。我们的研究结果旨在帮助全球公众全面了解巴西-法属圭亚那的疟疾情况,从而为控制和消除疟疾做出贡献:无利益冲突。
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CAN THE RS2234246 POLYMORPHISM IN THE TREM-1 GENE BE RELATED TO THE CLINICAL COURSE IN INDIVIDUALS INFECTED WITH PLASMODIUM VIVAX IN AN ENDEMIC AREA OF THE BRAZILIAN AMAZON?

Introduction

Plasmodium vivax is the most widely distributed species of malaria in the world. In Brazil, this parasite is responsible for around 90% of cases. Infections caused by P. vivax can generate a variety of symptoms, such as fever, chills, headache, nausea, vomiting and anemia. The immune response directly influences the individual's clinical evolution. The TREM-1 receptor is an important molecule that acts by recognizing the pathogen and amplifying inflammation. Polymorphisms in the gene encoding this protein have been linked to the severity of malaria.

Objective

We investigated the association between the SNP rs2234246 (C>T) in the TREM-1 gene and the development of nausea and vomiting in individuals infected with P. vivax in an area of the Brazilian Amazon.

Methodology

We analyzed 76 patients with a microscopic and molecular diagnosis of P. vivax and 114 controls from the municipality of Oiapoque in Amapá state, Brazil, on the border with French Guiana. The clinical signs of the individuals were assessed by a nurse. Genomic DNA was extracted from blood samples and the SNP rs2234246 was genotyped by qPCR. The occurrence of nausea and vomiting symptoms was adjusted for the SNP using Logistic Regression. Variables such as: occurrence of anemia, gender, age, length of residence in the study area, number of previous episodes of malaria and period of the last malaria were inserted as adjustment variables for the logistic regression. All analysis was carried out with a 5% significance level.

Results

Among the 76 patients, 44.7% reported experiencing nausea and vomiting. As for SNP rs2234246 genotyping, CC = 15, CT = 42 and TT = 19. In the association between the SNP and symptoms, it was observed that infected individuals with the TT mutant genotype for the TREM-1 rs2234246 C>T SNP were 90% less likely (OR = 0.1; 95% CI = 0.0 - 0.6; p = 0.013) to develop nausea and vomiting than wild-type CC individuals. The reduced risk of developing these symptoms may provide relevant insight into the human parasite-host relationship in the population studied, which may suggest a possible protective role for the homozygous mutant allele (TT). Case highlighting characteristics malaria vivax infection, necessitating close clinical and laboratory correlation.

Conclusion

Our results aim to help the global public develop a comprehensive understanding of malaria in Brazilian-French Guiana, thereby contributing to malaria control and elimination.

Keywords

Immunological Factors, Malaria, Polymorphism, Genetic, Signs and Symptoms.

Conflicts of interest

There was no conflicts of interest.

Ethics and financing: Declarations of interest

None.
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来源期刊
CiteScore
5.50
自引率
0.00%
发文量
925
审稿时长
41 days
期刊介绍: The Brazilian Journal of Infectious Diseases is the official publication of the Brazilian Society of Infectious Diseases (SBI). It aims to publish relevant articles in the broadest sense on all aspects of microbiology, infectious diseases and immune response to infectious agents. The BJID is a bimonthly publication and one of the most influential journals in its field in Brazil and Latin America with a high impact factor, since its inception it has garnered a growing share of the publishing market.
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