Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.

@article{Sharma2012AssociationOG,
  title={Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.},
  author={Shiwani Sharma and Kathryn P Burdon and Glyn Chidlow and Sonja Klebe and April Crawford and David P. Dimasi and Alpana Dave and Sarah F. Martin and Shahrbanou Javadiyan and John P. M. Wood and Robert J Casson and Patrick Danoy and Kim M. Griggs and Alex W. Hewitt and John David Landers and Patricia D. Mitchell and David A Mackey and Jamie E Craig},
  journal={Investigative ophthalmology & visual science},
  year={2012},
  volume={53 8},
  pages={
          4917-25
        }
}
PURPOSE Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and 9p21, with POAG. In this study, we determined association of the most significantly associated single nucleotide polymorphism (SNP) rs4656461, at 1q24 near the TMCO1 gene, with the clinical parameters related to glaucoma risk and diagnosis, and determined ocular expression and… CONTINUE READING
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