Lack of Association with PEDF Met72Thr Variant in Neovascular Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population

Abstract

No evidence was found to support a role for the Met72Thr variant in susceptibility to either PCV or nAMD in a Han Chinese cohort.

Association of PEDF polymorphisms with age-related macular degeneration and polypoidal choroidal vasculopathy: a systematic review and meta-analysis

“…However, one GWA study did not provide genotype or allele data in controls and was excluded from further analysis 52 . Therefore, a total of 8 case-control studies were finally included for the meta-analysis 40 41 42 43 44 45 46 53 , involving 2284 AMD cases versus 3416 controls, and 317 PCV cases versus 371 controls. The main characteristics of the included studies were summarized in Table 1 .…”

“…Risk of population stratification presented in 1 study, which used spouses and friends as control subjects 53 . There was risk of confounding bias in 5 studies, in which results were not adjusted for confounding variables 40 41 45 46 53 . All the studies reported Hardy-Weinberg equilibrium (HWE) in controls.…”

“…SNP rs1136287 is the most-investigated SNP in AMD, with a total of 2284 cases and 3416 controls included for the meta-analysis 40 41 42 43 44 45 46 53 . The pooled results showed no statistically significant association between rs1136287 and all forms of AMD ( Table 3 and Fig.…”

“…Later, rs1136287 was found to be associated with AMD in the Taiwanese and Korean populations 40 41 , providing initial evidences to support PEDF as a susceptibility gene for AMD. Subsequent studies in Caucasians and other Asian cohorts, including Japanese and Chinese, did not identify a significant association between rs1136287 and AMD, but the effects of the SNP, represented by the odds ratio (OR), were variable across study cohorts 42 43 44 45 46 . As such, whether PEDF rs1136287 is a genuine genetic marker for AMD remains inconclusive.…”

“…Also, whether there is population-specific association of this SNP with AMD needs further confirmation. Moreover, SNPs other than rs1136287, such as rs12150053, rs12948385 and rs9913583 in PEDF had also been reported in AMD or PCV 41 43 44 45 46 , but their associations remains inconclusive.…”