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Updated: May 11, 2026
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Published on: February 4, 2021
Evaluation of pigment epithelium-derived factor and complement factor I polymorphisms as a cause of choroidal
Masahiro Miyake1, Kenji Yamashiro, Hideo Nakanishi
1Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Purpose:
A case-control study in a relatively large cohort of highly myopic patients was conducted to explore the genetic background of the occurrence of choroidal neovascularization (CNV) secondary to high myopia.
Methods:
We evaluated three single nucleotide polymorphisms (SNPS) from two candidate genes: pigment epithelium-derived factor (PEDF) and complement factor I (CFI). The SNPs were selected based on previous reports. A total of 1082 unrelated highly myopic (i.e., axial length ≥ 26 mm in at least one eye) Japanese individuals with CNV (n = 478) and without CNV (n = 557) who were 50 years of age and older were genotyped by using an SNP assay. Multivariable logistic regression was conducted to adjust for age, sex, and axial length.
Results:
compared with individuals without CNV, subjects with CNV were significantly older (P 0.01) and more likely to be female (P 0.01), but they did not have a significantly different axial length (P = 0.50). We did not find an association between the three SNPS and the occurrence of CNV. However, a subanalysis using extremely myopic patients (case: control = 284:317) revealed a marginal association of rs12603825 in the PEDF gene (P = 0.045). The contribution of rs1136287 in CFI was not found in any analysis.
Conclusions:
We demonstrated a marginal association of the PEDF SNP, rs12603825, with myopic CNV in extremely myopic patients. A further study using a larger cohort might elucidate a significant association; rs1136287 in CFI is less likely to be associated in Japanese individuals.
