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Association between COMMD1 gene polymorphism rs11125908 and rheumatoid arthritis in the Cuban population

M Carpio Alvarez1, A Cintado Benitez2, T Diaz Argudin3

  • 1Pharmaceutical Department, Center for Genetic Engineering and Biotechnology, Havana. maidel.carpio@cigb.edu.cu.

Reumatismo
|June 25, 2024
PubMed

Insights

The rs11125908 polymorphism in the COMMD1 gene is associated with rheumatoid arthritis (RA) in the Cuban population. This genetic marker may influence disease development, particularly concerning swollen joints and age of onset.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Rheumatoid arthritis (RA) is a chronic autoimmune disease with a complex genetic component.
  • Identifying specific genetic polymorphisms associated with RA can elucidate disease mechanisms and inform therapeutic strategies.

Purpose of the Study:

  • To investigate the association between the rs11125908 polymorphism in the COMMD1 gene and rheumatoid arthritis (RA) in a Cuban population.
  • To explore potential correlations between this polymorphism and clinical manifestations of RA.

Main Methods:

  • A case-control study involving 161 RA patients and 150 healthy controls.
  • Genotyping for the rs11125908 polymorphism using allele-specific polymerase chain reaction (PCR) and DNA sequencing for verification.
  • Statistical analysis using logistic regression and SNPStats software to calculate odds ratios (OR) and confidence intervals.

Main Results:

  • A significant association was found between the rs11125908 polymorphism and RA under an overdominant model (p=0.025; OR=1.91).
  • Subgroup analyses revealed associations with the number of swollen joints (p=0.034; OR=2.30 for AG, p=0.034; OR=0.82 for GG under codominant model) and age of onset (p=0.027; OR=2.27 for AG under overdominant model).
  • No association was observed with Disease Activity Score 28 (DAS28) or disease duration.

Conclusions:

  • The rs11125908 polymorphism in the COMMD1 gene is associated with rheumatoid arthritis in the Cuban population.
  • This genetic variant may play a role in specific clinical features of RA, such as the number of swollen joints and age of onset.
  • Findings suggest potential therapeutic targets for RA through modulation of COMMD1 gene expression.
Abstract

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