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ABSTRACT
Purpose: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU.
Methods: A case–control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors.
Results: A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513–0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status.
Conclusions: This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
ACKNOWLEDGMENTS
We thank the patients and their family members for their participation in this study.
SUPPLEMENTAL MATERIAL
Supplemental data for this article can be accessed on the publisher’s website.
DECLARATION OF INTEREST
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.
Funding
This work was supported by National Key Basic Research Program (2013CB967502 to Z.BJ), National Natural Science Foundation of China (81371059 to Z.BJ), Zhejiang Provincial Natural Science Foundation of China (LR13H120001 to Z.BJ), Zhejiang Provincial Natural Science Foundation of China (LY15H120003 to YW), Key Research Program of the Eye hospital of Wenzhou Medical University (YNZD01402 to YW), Wenzhou Science and Technology Foundation (Y20150255 to YW).
