Related Experiment Video
Updated: Mar 20, 2026
12:33
Determination of Biofilm Initiation on Virus-infected Cells by Bacteria and Fungi
Published on: July 6, 2016
10.1K
Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis
Nada Abdelmagid1, Biborka Bereczky-Veress1, Santosh Atanur2
1Department of Clinical Neuroscience, Neuroimmunology Unit, Karolinska Institutet, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
Plos One
|May 26, 2016
Summary
Genetic variants in the von Willebrand factor (VWF) gene may predispose individuals to Herpes simplex encephalitis (HSE). This study identified VWF gene variants associated with HSE susceptibility in both rat models and human patients.
Area of Science:
- Neurovirology
- Genetics
- Immunology
Background:
- Herpes simplex encephalitis (HSE) is a severe neurological complication of Herpes simplex virus type-1 (HSV-1) infection.
- The reasons why only certain individuals develop HSE despite widespread HSV-1 latency remain unclear.
- Host genetic factors are hypothesized to play a role in HSE susceptibility.
Purpose of the Study:
- To investigate potential host genetic variants predisposing to HSE.
- To identify specific genes and genetic loci associated with HSE pathogenesis.
Main Methods:
- Utilized a rat model of HSE comparing susceptible (SHR) and resistant (BN) strains.
- Performed genome-wide linkage analysis on HXB/BXH recombinant inbred lines (RILs) to identify quantitative trait loci (QTLs).
- Genotyped single nucleotide polymorphisms (SNPs) in the von Willebrand factor (VWF) gene in human HSE cases and controls.
Main Results:
- A significant QTL, Hse6, was identified on rat chromosome 4, containing the Vwf gene.
- The Vwf gene was the only gene within the QTL exhibiting cis-regulation in the brain and containing non-synonymous SNPs.
- Specific SNPs in the human VWF gene, particularly rs917859, were nominally associated with human HSE pathogenesis.
Conclusions:
- Variants within the VWF gene are candidate genetic factors contributing to susceptibility in experimental and human HSE.
- This study highlights the VWF gene as a potential target for understanding HSE pathogenesis.
- Further research is warranted to elucidate the precise mechanisms by which VWF variants influence HSE development.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
16.5K
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...
16.5K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
86
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...
86
01:25Arboviral Encephalitis
2
Arboviral encephalitis refers to brain inflammation caused by arthropod-borne viruses, particularly those transmitted through mosquito vectors. Among these, West Nile virus (WNV), a member of the Flaviviridae family, is a significant public health concern. WNV is an enveloped, positive-sense, single-stranded RNA virus. Human infection typically begins when an infected mosquito introduces the virus into the dermis during feeding. The primary transmission cycle involves birds as amplifying hosts...
2
01:05Single Nucleotide Polymorphisms-SNPs
19.7K
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,...
19.7K
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
102
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...
102
01:33Pleiotropy
44.0K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.0K