Evaluation of FGF10 as a candidate gene for high myopia in a Han Chinese population

Background:Fibroblast growth factor 10(FGF10)is implicated in the growth and development of the eye.Four singles nucleotide polymorphisms(SNPs)in the FGF10 gene(including rs1384449,rs339501,rs12517396 and rs10462070)were found to be associated with extreme myopia(EM,refractive error≤−10.0 diopters)in Japanese and Chinese Taiwan population.This case-control association study was conducted to explore the relationship between these four SNPs and high myopia in a western Chinese population.Methods:A total of 869 high myopia patients(HM,including 485 EM patients)and 899 healthy controls were recruited.These four SNPs were genotyped using the ABI SNaPshot method.Five genetic models(allelic,homozygous,heterozygous,dominant,and recessive)were applied to further evaluate the possible correlation between the SNPs and high myopia.The linkage-disequilibrium block(LD)structure was tested by Haploview Software.Results:In our study,no statistically significant differences were found between HM/EM patients and controls after Bonferroni multiple-correction(P>0.05)in the allele frequencies of these four SNPs in the FGF10 gene.We further found that rs12517396AA and rs10462070GG carriers showed a decreased risk of HM/EM compared with rs12517396AC+CC and rs10462070GA+AA carriers(P=0.045,OR=0.366;P=0.021,OR=0.131;P=0.03,OR=0.341;P=0.015,OR=0.122;respectively).Additionally,rs12517396AA and rs10462070GG carriers showed the same decreased risk of HM/EM compared with rs12517396CC and rs10462070AA carriers(P=0.048,OR=0.370;P=0.023,OR=0.133;P=0.032,OR=0.346;P=0.017,OR=0.126).However,these significant associations between rs12517396/rs10462070 and HM/EM disappeared after Bonferroni multiple-correction(P>0.05).Conclusion:Our findings indicate that rs12517396 and rs10462070 had marginal association with HM and EM.The other two common polymorphisms in FGF10 unlikely have significant effects in the genetic predisposition to HM/EM in western Chinese population.Further replication studies are needed to validate our findings in both animal models and human genetic epidemiologic studies.