Human immune polymorphisms associated with the risk of cryptococcal disease
Chinaemerem U Onyishi1, Robin C May1
1Institute of Microbiology & Infection, School of Biosciences, University of Birmingham, Birmingham, UK.
Immunology
|October 30, 2021
Summary
Genetic variations influence susceptibility to fungal infections like cryptococcal meningitis. Understanding these host genetic polymorphisms is crucial for predicting disease severity and outcomes in patients with Cryptococcus neoformans.
Area of Science:
- Immunology
- Genetics
- Mycology
Background:
- Cryptococcus neoformans causes life-threatening meningitis, particularly in immunocompromised individuals.
- Disease course varies significantly, suggesting a role for host genetic factors.
- Genetic polymorphisms may influence susceptibility and disease progression.
Purpose of the Study:
- To review current knowledge on genetic polymorphisms affecting host response to C. neoformans.
- To identify specific polymorphisms associated with cryptococcal disease risk.
- To explore the impact of genetic background on polymorphism effects.
Main Methods:
- Literature review of genetic association studies.
- Analysis of polymorphisms in immune response genes (e.g., Fc gamma receptors, mannose-binding lectin, Dectin-2, Toll-like receptors, macrophage colony-stimulating factor).
- Examination of population-specific effects of polymorphisms.
Main Results:
- Polymorphisms in several immune genes are linked to cryptococcal disease susceptibility.
- The impact of certain polymorphisms (e.g., FCGR3A 158 F/V) is population-dependent.
- Impaired fungal recognition and phagocytosis by innate immune cells are potential mechanisms.
Conclusions:
- Host genetic polymorphisms play a significant role in cryptococcal disease.
- Further research with diverse populations is needed to elucidate mechanisms and identify at-risk individuals.
- Understanding genetic factors can inform personalized risk assessment and treatment strategies.
Keywords:
Cryptococcus neoformanscryptococcal meningitisgenetic susceptibilitygenome wide association studysingle nucleotide polymorphismMore Related Videos
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
16.8K
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,...
16.8K
Genome-wide Association Studies-GWAS
14.7K
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...
14.7K
Antigens Involved in Adaptive Immunity
784
An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
Complete Antigens
Complete antigens possess both immunogenicity and...
Complete Antigens
Complete antigens possess both immunogenicity and...
784
Factors Affecting the Risk of Infection
12.8K
The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin...
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin...
12.8K


