Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response

Area of Science:

• * Rheumatology and Human Genetics
• * Molecular Pathogenesis of Autoimmune Diseases

Background:

• * Rheumatoid arthritis (RA) is a prevalent inflammatory arthropathy with diverse clinical presentations.
• * RA pathogenesis involves genetic predisposition and environmental triggers, with familial aggregation observed.
• * Current genetic insights explain only a portion of familial RA cases, necessitating further investigation.

Purpose of the Study:

• * To review data on rheumatoid arthritis candidate genes and their association with disease risk across populations.
• * To explore the utility of genetic variants in predicting RA development, progression, and treatment response.
• * To elucidate the role of genetic variants in personalized medicine for RA treatment selection.

Main Methods:

• * Comprehensive literature review of rheumatoid arthritis candidate genes and associated risk alleles.
• * Analysis of genomewide association study (GWAS) data to identify relevant genes and pathways.
• * Examination of studies investigating the prognostic value of genetic variants in RA.

Main Results:

• * Certain RA candidate gene variants are linked to increased disease risk in diverse populations.
• * Genomewide association studies have identified key genes and signaling pathways implicated in RA pathogenesis.
• * Existing identified RA candidate gene variants account for only 30% of familial RA cases, highlighting a gap in knowledge.

Conclusions:

• * Further research is crucial to identify genetic causes for the remaining familial RA cases.
• * Understanding genetic risk factors can aid in identifying at-risk populations and individuals.
• * Genetic variants hold potential for guiding personalized drug selection in rheumatoid arthritis treatment.