The Investigation of Vimentin Exons and Promoter Regions in Age-related Cortical Cataract
|Keywords||Age-related cortical cataract Vimentin exon 5’UTR promoter regions SNPs|
Objective: To explore the association between Vimentin exons and promoter regions (including 5’ untranslated region, 5’UTR) with Age-related cortical cataract in Han Chinese.Methods: Hospital-based case control study was taken. Age-related cortical cataract patients (138 cases, case group) and matched controls (133 controls, control group) were recruited in this study. Genomic DNA obtained from peripheral blood was used as template, Vimentin gene exons and promoter sequences were detected by PCR-sequencing. Homology analysis was performed using blastn in GenBank. All of the subjects were genotyped for the six single nucleotide polymorphisms (SNPs), namely: VIM: rs3758410 (VIM: g. 17271400G>C)、VIM: g. 17271110G>C、VIM: g. 17270912A>G、VIM: rs17140300 (VIM: g. 17269762A>G)、VIM: g. 17268954C>G and VIM: g. 17268834T>C by PCR-sequencing. The distribution of the genotypes and haplotypes were compared by theχ2 test for trend.Results: None mutation or SNP was found in exons of Vimentin gene in Age-related cortical cataracts and controls. Two of the three SNPs in 5’UTR were showed significant differences between Age-related cortical cataracts and the general population controls. The alle frequency of VIM: rs3758410 (VIM: g. 17271400G>C) polymorphism was significantly higher in Age-related cortical cataracts than that in controls (P =0.0001, OR: 2.208). The frequency of VIM: g. 17271110G>C genotype was found marginally statistically significant (P =0.04, OR: 1.591) in cases than that in controls. The haplotype characterized by the VIM: g. 17270912G and VIM: g. 17271110C-22G was highly associated with Age-related cortical cataract (P =0.008, OR: 8.185). Three SNPs (VIM: rs17140300 (VIM: g. 17269762A>G)、VIM: g. 17268954C>G and VIM: g. 17268834T>C) in Vimentin promoter regions were showed no significant difference between the Age-related cortical cataracts and the controls (P >0.05).Conclusions: In our study, The whole exon of Vimentin gene is not associated with Age-related cortial cataract in Han Chinese. In this study, we find four new SNPs for the first time, namely: VIM: g. 17271110G>C、VIM: g. 17270912A>G、VIM: g. 17268954C>G and VIM: g. 17268834T>C. VIM:rs3758410 (VIM:g. 17271400G>C) and VIM:rs17140300 (VIM:g. 17269762A>G) are also first time found in Age-related cortial cataract. VIM: g. 17270912G and VIM: g. 17271110C-22G haplotype may represent candidates for age-related cataract susceptibility in Han Chinese.