Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort
2009

Genetic Analysis of Autoimmune Genes in Uveitis Patients

Sample size: 140 publication Evidence: low

Author Information

Author(s): Martin Tammy M., Bye Louise, Modi Neil, Stanford Miles R., Vaughan Robert, Smith Justine R., Wade N. Kevin, Mackensen Friederike, Suhler Eric B., Rosenbaum James T., Wallace Graham R.

Primary Institution: Oregon Health & Science University

Hypothesis

Do polymorphisms in PTPN22 and CTLA-4 genes contribute to acute anterior uveitis (AAU)?

Conclusion

The study found no association between SNPs in PTPN22 and CTLA-4 and acute anterior uveitis.

Supporting Evidence

  • No significant association was found between the SNPs and AAU.
  • The study included a well-defined cohort of AAU patients and matched controls.
  • The findings suggest AAU may be more autoinflammatory than autoimmune.

Takeaway

The researchers looked at genes that might cause eye inflammation but found that they don't seem to play a role in this condition.

Methodology

SNPs in PTPN22 and CTLA-4 were analyzed in 140 AAU patients and 92 healthy controls using SSP-PCR.

Limitations

The study only tested specific SNPs and did not include other potential genetic factors.

Participant Demographics

140 AAU patients (78 female, 62 male), primarily Caucasian; 92 healthy controls (54 female, 38 male), mostly Caucasian.

Statistical Information

P-Value

p=0.217

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