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Association of CTLA4 Gene Polymorphisms with Rheumatoid Arthritis Susceptibility.

Abdullah Albahar¹, Ibrahim Torktaz², Massoud Houshmand³

¹Sheikh Jaber Al Ahmed Al Jaber Al Sabah Hospital, Kuwait City, Kuwait.

Genetic Testing and Molecular Biomarkers

|May 27, 2025

Summary

Genetic variations in the CTLA4 gene are linked to rheumatoid arthritis (RA) risk. Specific single nucleotide polymorphisms (SNPs) and haplotypes may predict RA susceptibility and progression.

Keywords:

CTLA4 immunity rheumatoid arthritis rheumatoid factor single nucleotide polymorphism

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Published on: April 1, 2019

Area of Science:

Immunogenetics
Rheumatology

Background:

Rheumatoid arthritis (RA) is a prevalent chronic inflammatory joint disease.
RA affects approximately 0.24-1% globally, disproportionately impacting middle-aged and older women.
Understanding the genetic underpinnings of RA is crucial for effective management.

Purpose of the Study:

To investigate the association between five single nucleotide polymorphisms (SNPs) in the CTLA4 gene and rheumatoid arthritis (RA).
To identify potential genetic markers for RA susceptibility and progression.

Main Methods:

Case-control study involving 200 RA patients and 184 healthy Iranian controls.
Polymerase Chain Reaction (PCR) and genotyping were employed to analyze SNPs.
Haplotype analysis was conducted to assess combined SNP effects.

Main Results:

Four out of five studied CTLA4 SNPs demonstrated a significant association with RA.
Specific CTLA4 haplotypes were found to be significantly associated with RA.
These findings suggest a genetic link between CTLA4 variations and RA development.

Conclusions:

Certain CTLA4 gene SNPs may function as predictive genetic markers for RA.
Identifying these markers could aid in predicting RA susceptibility and disease progression.
This research supports the potential for personalized treatment strategies in RA management.