Association Study Of Single Nucleotide Polymorphisms In TGFβ1 And TGFβ3 Genes With High Myopia

Purposes:to find the associated SNPs in TGFβ1 and TGFβ3 with high myopia in order to learn the study the etiology of high myopia.Methods:Case-control association stuty was used in the research.Randomly choose 300 high myopia individuals(equal to or high than 8.00D)and 300 normal samples(+/- 0.75D),extract blood samples.Input threshold in Haploview4.0,select tag SNP by HAPMAP genotype data,and then do genotyping.For TGFβ1,we use PCR-RFLP to genotype rs1800469,rs1982073,rs4803455and rs12983047;use PE-DHPLC for rs10417924 and rs11466345;AS-PCR for rs2241716 and rs12981053. For TGFβ3,use PCR-RFLP for rs3917158,rs4252328,rs2268626, rs2284791,rs3917192,and rs3917205,AS-PCR for rs3917201 and rs3917210. According to the genotyping result,we could get the result of the allele frequency and genotyping frequency,and do statistic.Results:Section one:We found that all the SNPs but rs10417924 are in HWE.For rs12981053,rs11466345 and rs2241716,there have no association with high myopia. But for rs4803455,rs2241716,rs1800469 and rs1982073,there were significant difference between cases and controls in allele and genotyping frequency,which indicate that association exists between these markers and high myopia.Wald test shows rs4803455 had the most possibility to be the real effective SNP. Section two:Results show that all SNPs but rs3917210 are in HWE.Only rs3917201 has significant association with myopia(p＜0.05).Conclusion:we test the high myopia candidate genes,TGFβ1 and TGFβ3,by candidate strategy.We selected tag SNPs by Haploview,recruit case and control samples,then do association analysis.Results show only TGFβ3 may have no association with high myopia.Four SNPs have been found to be associated with high myopia.