Molecular Analysis of the Vimentin Gene in the Barbados Family Study of Open–Angle Glaucoma (BFSG)

Abstract

Purpose: : In the Afro–Caribbean population of Barbados, West Indies, we have previously identified regions contributing to primary open–angle glaucoma (POAG) on chromosomes 2q and 10p. Here we evaluate the relationship of Vimentin gene (VIM, located at 10p13) to the presence of POAG in a small subset of African–origin participants from the BFSG, who are known to have high rates of POAG.

Methods: : Locus–heterogeneity tests were carried out with the HOMOG3R program, selecting 64 POAG affected individuals from families most likely to be linked to chromosome 10p. Genomic DNA was extracted from leukocytes of the peripheral blood and all 9 exons of VIM for 64 POAG affected individuals and 64 unaffected controls were PCR amplified and subjected to bi–directional sequencing and analysis. Genotype and allele frequencies of all SNPs were compared using the Chi–square test.

Results: : Thirteen variants were observed in VIM in this subgroup of BFSG participants, of which 10 were novel. Genotype and haplotype analyses of VIM show no statistically significant differences between SNP frequencies in POAG participants and unaffected controls. Two sequence changes resulted in amino acid changes in the protein, D181A and D271E, and three more occurred in the coding sequence, however did not alter the amino acid sequence.

Conclusions: : Based on this small subgroup analysis from the BFSG, there does not appear to be a significant association between POAG and SNPs in the Vimentin gene.

Keywords: genetics • anterior chamber • optic disc