Genetic Variations and Rheumatoid Arthritis
Author Information
Author(s): Marieke Emonts, Mieke JMW Hazes, Jeanine J Houwing-Duistermaat, Christa E van der Gaast-de Jongh, Lisette de Vogel, Huub KH Han, Jacques MGW Wouters, Jon D Laman, Radboud JEM Dolhain
Primary Institution: Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Hypothesis
Polymorphisms in selected inflammatory response and tissue repair genes contribute to the susceptibility to and severity of rheumatoid arthritis.
Conclusion
The study found an association between the IL8 781 C/T polymorphism and the age of onset of rheumatoid arthritis, but no significant associations with disease severity were observed.
Supporting Evidence
- The IL8 781 CC genotype was associated with early onset of disease.
- The TNFA -238 G/A polymorphism was differentially distributed between RA patients and controls.
- None of the polymorphisms was associated with disease severity.
Takeaway
This study looked at how certain genes might affect when people get rheumatoid arthritis, but it didn't find strong links to how severe the disease is.
Methodology
The study genotyped polymorphisms in various genes in 376 RA patients and 463 healthy controls and compared genotype distributions.
Potential Biases
The study may be influenced by the use of disease-modifying anti-rheumatic drugs (DMARDs) and disease progression.
Limitations
The relatively small sample size limits the chance of finding loci of modest effect size, and confirmation in independent cohorts is required.
Participant Demographics
Participants included 376 Caucasian RA patients and 463 healthy Caucasian controls, with a mean age of 59.3 years for patients and 39.1 years for controls.
Statistical Information
P-Value
0.04
Confidence Interval
95% CI 1.38-4.46
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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