Related Experiment Video
Updated: May 10, 2026
11:10
Genotypic Inference of HIV-1 Tropism Using Population-based Sequencing of V3
Published on: December 27, 2010
Polymorphisms in TREX1 and susceptibility to HIV-1 infection
A Pontillo1, M Girardelli, E Catamo
1Department of Immunology, Institute of Biologic Sciences, University of Sao Paulo, Sao Paulo, Brazil.
International Journal of Immunogenetics
|June 19, 2013
Summary
The gene TREX-1 acts as a defense against HIV-1. Genetic analysis revealed a specific variation, rs3135945, linked to HIV susceptibility, highlighting TREX-1
Area of Science:
- Immunology
- Genetics
- Virology
Background:
- The human immunodeficiency virus type 1 (HIV-1) poses a significant global health challenge.
- Host genetic factors play a crucial role in determining susceptibility and progression of HIV-1 infection.
- TREX-1 (three prime repair exonuclease 1) is recognized as a cellular restriction factor influencing viral replication.
Purpose of the Study:
- To investigate the role of genetic variations in the TREX1 gene in the context of HIV-1 infection.
- To identify specific single nucleotide polymorphisms (SNPs) associated with susceptibility to HIV infection.
Main Methods:
- Genomic DNA was extracted from individuals with HIV (HIV+).
- The coding sequence of the TREX1 gene was analyzed for genetic variations.
- Statistical association analysis was performed to link genetic polymorphisms with HIV infection status.
Main Results:
- A significant association was found between the single nucleotide polymorphism rs3135945 and HIV infection.
- This finding suggests that variations in TREX1 may influence an individual's susceptibility to HIV-1.
Conclusions:
- The TREX1 gene and its genetic variations are implicated in the host's innate immune response against HIV-1.
- The rs3135945 polymorphism is a potential biomarker for HIV susceptibility, underscoring TREX-1's role in anti-HIV defense.
Related Concept Videos
02:32Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
03:18Non-LTR Retrotransposons
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
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...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
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...
01:05Single Nucleotide Polymorphisms-SNPs
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,...
01:19X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.