Title:The Functional Impact of Alternative Splicing and Single Nucleotide Polymorphisms in Rheumatoid Arthritis
Volume: 22
Issue: 8
Author(s): R. Kowshik Aravilli, S. Laveen Vikram and V. Kohila*
Affiliation:
- Department of Biotechnology, National Institute of Technology Warangal, Warangal,India
Keywords:
Rheumatoid arthritis, alternative splicing, bone deformation, inflammation, single nucleotide polymorphisms, autoimmunity.
Abstract: Advances in genomics and proteomics aid the identification of genes associated with various
diseases. Genome-Wide Association Studies (GWAS) have identified multiple loci as risk alleles
for susceptibility to Rheumatoid Arthritis (RA). A bisection of RA risk can be attributed to genetic factors.
Over 100 associated genetic loci that encompass immune regulatory factors have been found to be
linked with RA. Aberrant Single Nucleotide Polymorphisms (SNPs) and alternative splicing mechanisms
in such loci induce RA. These aberrations are viewed as potential therapeutic targets due to their
association with a multitude of diseases. This review presents a few imperious genes whose alterations
can cause severe bone deformities culminating in RA.