The Functional Impact of Alternative Splicing and Single Nucleotide Polymorphisms in Rheumatoid Arthritis

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.

Automated summary

Advancements in genomics and proteomics have facilitated the identification of genes associated with various diseases, including Rheumatoid Arthritis (RA) susceptibility. Over 100 immune regulatory genetic loci have been linked with RA, with aberrant SNPs and alternative splicing mechanisms in these loci inducing RA. These abnormalities are considered as potential therapeutic targets due to their association with multiple diseases.