UBASH3A gene polymorphisms and expression profile in rheumatoid arthritis

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• UBASH3A plays a crucial role in various autoimmune diseases.
• Understanding the genetic basis of rheumatoid arthritis (RA) is essential for developing targeted therapies.

Purpose of the Study:

• To investigate the association between UBASH3A gene single-nucleotide polymorphisms (SNPs) and RA in a Chinese Han population.
• To compare UBASH3A expression levels in patients with RA and healthy individuals.

Main Methods:

• Genotyping of four UBASH3A polymorphisms (rs1893592, rs11203203, rs2277798, rs3788013) in 553 RA patients and 587 controls using Fluidigm technology.
• Assessment of UBASH3A mRNA levels in peripheral blood mononuclear cells (PBMCs) from 30 RA patients and 31 healthy controls via real-time quantitative polymerase chain reaction (RT-qPCR).

Main Results:

• Significant associations were found between rs1893592 and rs3788013 polymorphisms and RA susceptibility.
• rs1893592 was associated with rheumatoid factor (RF) positivity, and rs2277798 with anti-cyclic citrullinated peptide (anti-CCP) antibody positivity.
• UBASH3A mRNA expression was significantly increased in PBMCs of RA patients compared to healthy controls (p=0.001).

Conclusions:

• UBASH3A dysregulation is implicated in RA pathogenesis.
• Specific UBASH3A gene polymorphisms (rs1893592 and rs3788013) may contribute to RA susceptibility in the Chinese Han population.