Association Of Variants In FRAP1 And PDGFRA With Myopia In A Han Chinese Population

Aim: Myopia is the most common refractive error in the world,and high myopia often causes a variety of eye complications,which will seriously cause blindness.FRAP1 and PDGFRA were identified to have association with corneal curvature(CC)in a previous genome-wide association study.Since CC is a key determinant of myopia,we conducted a case-control association study to evaluate whether the genetics variants in FRAP1 and PDGFRA were associated with high myopia in a Han Chinese population.A total of 921 high myopia patients and 947 healthy controls were recruited in this study.Method: Genomic DNA was withdrawn from peripheral blood,and 11 SNPs were genotyped by using the ABI SNaPshot method in this cohort.We applied five genetic models(allelic model,dominant model,recessive model,homo model,hetero model)to further evaluate the association of these 11 SNPs with high myopia.Result: All the genotype frequencies of these SNPs were in Hardy-Weinberg equilibrium(HWE)(P>0.05).There were no significant differences in genotypes and allele frequency distribution of the FRAP1 and PDGFRA gene between high myopia patients and controls(P value from 0.551 to 0.994).Furthermore,haplotype analysis showed rs6540964,rs2275525,rs1057079,rs2076655 and rs12142905 in the FRAP1 gene were belong to Linkage disequilibrium(LD)blocks structures,generating five haplotypes.While there are two SNPs(rs17084051 and rs2114039)in one LD in PDGFRA gene generating three haplotypes.However,the haplotypes generated from these two genes also had no significant association with high myopia in this study.We further investigated the association between extrem myopia,pathologic myopia and 11 SNPs by using different genetic models.It uncovered people with rs7660560AG+GG have more risk than those with rs7660560 AA.Moreover,the results suggested that subjects carrying the rs17036631 CT and rs173036631CT+TT were more likely to suffer from PM than those carrying CC genotype(P=0.020,OR=1.429,95%CI=1.056-1.935;P=0.048,OR=1.352,95%CI=1.002-1.830,respectively).Compared with the subjects carrying the rs7660560 GG and rs7660560GG+AG,the people with rs7660560 AA were less likely to suffer from PM(P=0.020,OR=0.211,95%CI=0.050-0889;P=0.016,OR=0.202,95%CI=0.048-0.849,respectively).Conclusion: Our findings suggested that genetic variants of FRAP1 and PDGFRA are not statistically associated with high myopia and extreme highy myopia in the Han Chinese population,but the relationship with pathological myopia needs to further explore.The genetic backgrounds of CC and high myopia might be different.However,this study extended our understanding of the association between FRAP1 and PDGFRA and high myopia,and further studies needed to validate the role of FRAP1 and PDGFRA in the myopia development.