PTPN22 Polymorphism and Rheumatoid Arthritis in Europe
Author Information
Author(s): Michele Ciro Totaro, Barbara Tolusso, Valerio Napolioni, Francesca Faustini, Silvia Canestri, Alice Mannocci, Elisa Gremese, Silvia Laura Bosello, Stefano Alivernini, Gianfranco Ferraccioli
Primary Institution: Catholic University of the Sacred Heart, Rome, Italy
Hypothesis
The study aims to evaluate the association between the PTPN22 rs2476601 polymorphism and rheumatoid arthritis in Italian subjects and compare results with other European countries.
Conclusion
The PTPN22 T1858 allele is associated with rheumatoid arthritis in the Italian population, showing a North-South gradient in allele frequency across Europe.
Supporting Evidence
- The PTPN22 T1858 allele was significantly more frequent in RA patients compared to controls (5.7% vs. 3.7%).
- A North-South gradient in allele frequency was observed across Europe.
- The study included a meta-analysis of 23 studies to support the findings.
Takeaway
This study found that a specific gene variant is more common in people with rheumatoid arthritis in Italy, and this variant is less common in southern Europe compared to northern Europe.
Methodology
A case-control study with 396 RA patients and 477 controls, genotyping for PTPN22 rs2476601 and a meta-analysis of 23 studies.
Potential Biases
Potential publication bias was assessed but not found.
Limitations
The study is limited to Italian subjects and may not represent other populations.
Participant Demographics
79% of RA patients were female, all participants were of Italic ancestry.
Statistical Information
P-Value
0.045
Confidence Interval
(1.01–2.49)
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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