Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.

@article{Iglesias2014ExomeSA,
  title={Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.},
  author={Adriana I Iglesias and Henri{\"e}t Springelkamp and Herma C Z van der Linde and Lies-anne Severijnen and Najaf Amin and Ben A. Oostra and Christel E M Kockx and Mirjam C. G. N. van den Hout and Wilfred F J van Ijcken and Albert Hofman and Andr{\'e} G. Uitterlinden and Robert M. Verdijk and Caroline C. W. Klaver and Rob Willemsen and Cornelia M van Duijn},
  journal={Human molecular genetics},
  year={2014},
  volume={23 5},
  pages={1320-32}
}
Primary open-angle glaucoma (POAG) is a hereditary neurodegenerative disease, characterized by optic nerve changes including increased excavation, notching and optic disc hemorrhages. The excavation can be described by the vertical cup-disc ratio (VCDR). Previously, genome-wide significant evidence for the association of rs10483727 in SIX1-SIX6 locus with VCDR and subsequent POAG was found. Using 1000 genomes-based imputation of four independent population-based cohorts in the Netherlands, we… CONTINUE READING