Association of PTPN22 1858 single-nucleotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patients
2006

Association of PTPN22 1858 SNP with Rheumatoid Arthritis in German Patients

Sample size: 739 publication 10 minutes Evidence: high

Author Information

Author(s): Pierer Matthias, Kaltenhäuser Sylke, Arnold Sybille, Wahle Matthias, Baerwald Christoph, Häntzschel Holm, Wagner Ulf

Primary Institution: University of Leipzig

Hypothesis

The PTPN22 1858T allele is associated with an increased risk of developing rheumatoid arthritis (RA) in a German cohort.

Conclusion

The PTPN22 1858T allele is significantly associated with rheumatoid arthritis, particularly in male patients.

Supporting Evidence

  • The odds ratio for developing RA was 2.57 for carriers of the PTPN22 1858T allele.
  • The frequency of the PTPN22 1858T allele was significantly higher in male patients (53.8%) compared to female patients (33.0%).
  • The PTPN22 1858T allele was associated with both RF positive and RF negative RA.
  • Homozygous carriers of the PTPN22 1858T allele had an odds ratio of 5.58 for developing RA.

Takeaway

This study found that a specific gene variant is more common in men with rheumatoid arthritis, suggesting that genetics play a big role in the disease.

Methodology

Genotyping of the PTPN22 1858 SNP was performed using a PCR-based genotyping assay on DNA from 390 RA patients and 349 controls.

Potential Biases

Potential sample bias due to the recruitment of patients from a single center.

Limitations

The study population was ethnically homogenous, which may limit the generalizability of the findings.

Participant Demographics

The cohort consisted of 390 RA patients (76.1% female) and 349 healthy controls (63.6% female), all of German origin.

Statistical Information

P-Value

p < 0.001

Confidence Interval

95% CI 1.85–3.58

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1186/ar1945

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