PDCD1 Genes and Vogt-Koyanagi-Harada Syndrome in Chinese Patients
Author Information
Author(s): Meng Qianli, Liu Xiaoli, Yang Peizeng, Hou Shengping, Du Liping, Zhou Hongyan, Kijlstra Aize
Primary Institution: Zhongshan Ophthalmic Center, Sun Yat-sen University
Hypothesis
To analyze the potential association of programmed cell death 1 (PDCD1) with Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population.
Conclusion
PD-1.3 and PD-1.6 polymorphisms are not associated with the susceptibility to VKH syndrome, but PD-1.5 may be negatively associated with extraocular manifestations.
Supporting Evidence
- Lower frequencies of the PD-1.5C genotype were observed in VKH patients with extraocular findings.
- Genotype distributions in healthy controls were in Hardy-Weinberg equilibrium.
- PD-1.3 and PD-1.6 polymorphisms were not associated with VKH syndrome susceptibility.
Takeaway
This study looked at genes that might affect a disease called VKH syndrome in Chinese people, finding that one gene might help prevent some symptoms.
Methodology
Genotyping of three SNPs in 247 VKH patients and 289 healthy controls using PCR-RFLP assay.
Potential Biases
Potential bias due to the selection of controls and the specific ethnic background of participants.
Limitations
The study only included Chinese Han patients, which may limit the generalizability of the findings.
Participant Demographics
247 VKH patients (109 female, 138 male) and 289 healthy controls (129 female, 160 male).
Statistical Information
P-Value
0.013
Confidence Interval
0.534–0.930
Statistical Significance
p<0.05
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