Modeling Genetic Susceptibility to Rheumatoid Arthritis
Author Information
Author(s): France Gagnon, David Hajage, Sabine Plancoulaine, Sophie Tezenas du Montcel
Primary Institution: Department of Public Health Sciences, Faculty of Medicine, University of Toronto
Hypothesis
Can we estimate the penetrances of PTPN22 and HLA-DRB1 and test the selected model of PTPN22 conditional on rheumatoid factor status?
Conclusion
The PTPN22 R620W SNP is a risk factor for rheumatoid arthritis, while the genetic architecture of the HLA-DRB1 locus is complex and requires more elaborate modeling.
Supporting Evidence
- PTPN22 R620W SNP is a risk factor for rheumatoid arthritis.
- HLA-DRB1 locus requires more complex modeling due to its genetic architecture.
- Co-dominant model fitted well for PTPN22 data.
Takeaway
This study looked at how certain genes might make people more likely to get rheumatoid arthritis, finding that one gene, PTPN22, is definitely a risk factor.
Methodology
The study used the North American Rheumatoid Arthritis Consortium data and employed the marker association segregation chi-square method to analyze genetic models.
Limitations
The study could not model epistasis for HLA-DRB1 due to lack of fit and complexity in allele classification.
Participant Demographics
3690 White individuals from 604 nuclear families.
Statistical Information
P-Value
0.002
Confidence Interval
[0.42–0.75]
Statistical Significance
p<0.05
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