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Author Spotlight: A Computational Pipeline for Analyzing Chimeric Noncoding RNA-Target RNA Interactions in High-Throughput Sequencing Data
Published on: December 1, 2023
Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus
S C Lobo-Alves1, D G Augusto1,2, W C S Magalhães3,4
1Laboratório de Genética Molecular Humana, Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.
Genetic variations in long noncoding RNA (lncRNA) genes are linked to pemphigus foliaceus (PF) susceptibility. This study identifies specific single-nucleotide polymorphisms (SNPs) associated with this autoimmune disease.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Pemphigus foliaceus (PF) is an autoimmune disease targeting desmoglein 1, influenced by genetic and environmental factors.
- Long noncoding RNAs (lncRNAs) are implicated in gene regulation and complex disease pathogenesis.
- Single-nucleotide polymorphisms (SNPs) in lncRNA genes may affect disease risk.
Purpose of the Study:
- To investigate the association between SNPs in lncRNA genes and susceptibility to endemic pemphigus foliaceus.
- To identify specific lncRNA genetic variations contributing to PF development.
Main Methods:
- Integrated lncRNA SNP database with genome-wide genotype data.
- Analyzed 2080 SNPs in lncRNAs for association with PF in 229 patients and 6681 controls using logistic regression.
Main Results:
- Identified a significant association between SNP rs7144332 in lncRNA gene AL110292·1 and PF (OR = 1·63, P = 2·8 × 10-6).
- Five additional SNPs showed suggestive association (P < 0·001).
- In silico analysis indicated potential impacts on transcription, lncRNA structure, and microRNA interactions for these SNPs.
Conclusions:
- Demonstrated that variations in lncRNA genes can influence pemphigus pathogenesis.
- Highlighted the role of lncRNA variation in autoimmune diseases.
- Suggested specific polymorphisms for further functional validation in complex diseases.
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