Related Experiment Video
Updated: Feb 24, 2026
08:20
Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images
Published on: October 27, 2023
2.7K
Candidate gene polymorphisms study between human African trypanosomiasis clinical phenotypes in Guinea
Justin Windingoudi Kaboré1, Hamidou Ilboudo1, Harry Noyes2
1Centre International de Recherche-Développement sur l'Elevage en zone Subhumide (CIRDES), Bobo-Dioulasso, Burkina Faso.
Plos Neglected Tropical Diseases
|August 23, 2017
Summary
Host genetic factors influence the outcome of Human African Trypanosomiasis (HAT). Specific IL6 gene variants are associated with a reduced risk of developing active HAT, offering insights into host-parasite interactions.
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Human African Trypanosomiasis (HAT) presents diverse clinical outcomes.
- Host genetic factors may influence disease progression in Trypanosoma brucei gambiense infections.
Purpose of the Study:
- Investigate the association between candidate gene polymorphisms and HAT outcomes in Guinea.
- Identify host genetic determinants of clinical diversity in HAT.
Main Methods:
- Genotyping of 28 single nucleotide polymorphisms (SNPs) in eight genes from 425 individuals (HAT cases, seropositive non-cases, endemic controls).
- Association analysis to determine the link between genetic variations and HAT outcomes.
Main Results:
- IL6 rs1818879 allele A showed a significant association with a lower risk of progressing to active HAT (p=0.0001).
- APOL1 G2 allele (DEL) was associated with higher HAT risk (p=0.0011), while APOL1 G1 was associated with lower risk (p=0.0005).
- Some associations with MIF gene polymorphisms were observed but did not remain significant after Bonferroni correction.
Conclusions:
- Host genes play a role in modulating Trypanosoma brucei gambiense infection outcomes.
- IL6 rs1818879 is a potential genetic marker for reduced risk of active HAT.
- Findings enhance understanding of host-parasite interactions for potential new control strategies.
Related Concept Videos
01:27Principles of Pharmacogenetics: Types of Genetic Variants
31
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
31
01:05Single Nucleotide Polymorphisms-SNPs
18.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.7K
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
45
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
45
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
26
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
26
01:29Pharmacogenomics: Identification of New Drug Targets
49
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
49
01:11Genome-wide Association Studies-GWAS
15.9K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.9K