Influence of Single Nucleotide Polymorphisms on CRS Outcomes: A Preliminary Observational Study
Antonino Maniaci1,2,3, Paolo Bonacci4, Stefania Stefani3
1Faculty of Medicine and Surgery, University of Enna "Kore", Enna, Italy.
The Laryngoscope
|August 22, 2024
Summary
Single nucleotide polymorphism (SNP) genotypes may help personalize treatment for chronic rhinosinusitis (CRS). Specific SNP variants correlated with better outcomes in patients receiving dupilumab therapy or surgery.
Area of Science:
- Otolaryngology
- Genetics
- Immunology
Background:
- Chronic rhinosinusitis (CRS) is a complex inflammatory condition.
- Understanding the genetic basis of CRS can inform treatment strategies.
Purpose of the Study:
- To investigate the association between specific single nucleotide polymorphism (SNP) variants and treatment outcomes in CRS patients.
- To evaluate the effectiveness of dupilumab therapy and endoscopic surgery in relation to SNP profiles.
Main Methods:
- Prospective study of 48 subjects (32 CRS patients, 16 controls).
- CRS patients received either dupilumab or surgery.
- SNP genotyping performed using TaqMan.
- Treatment response assessed via symptom scores (SNOT-22), Nasal Polyp Score (NPS), and Smell Identification Test (SIT) at 6 months.
Main Results:
- Both dupilumab and surgery reduced NPS, with surgery showing superior results.
- Dupilumab significantly improved SIT scores.
- Significant differences in SNP profiles (rs1800629, rs2856838, rs17561, rs1805011) were observed.
- Expression of rs2856838 and rs1805011 variants correlated with better SIT and SNOT-22 outcomes in the dupilumab group.
- rs2856838 expression in the surgery group was linked to improved SNOT-22 scores.
Conclusions:
- Preliminary findings suggest SNP genotypes can guide personalized CRS treatment.
- Larger prospective studies are needed to validate these results.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
14.9K
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,...
14.9K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Genome-wide Association Studies-GWAS
13.2K
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...
13.2K
CRISPR
50.0K
Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
50.0K


