A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma

PLoS One. 2018 Apr 9;13(4):e0195157. doi: 10.1371/journal.pone.0195157. eCollection 2018.

Abstract

Genetic polymorphismsof MYOCalter the myocilin protein,which leads to disruption of thenormal regulation of intraocular pressure (IOP) that ultimately causes glaucoma.Theaim of the present study was to identify the polymorphism in exon 3 of the MYOC gene of theglaucoma patients in Lahore, Pakistan. We conducted a case-control study with 100 patients and 100 controls subjects. We extracted DNA from blood samples,amplified the target DNA fragmentby PCR, and identifiedpolymorphisms through sequencing. We observed that the allelic and genotypic frequencies of rs74315341 and rs879255525 were associated with glaucoma in our patient population. The polymorphism atrs74315341 led to the substitutionof serine for arginine,whereas the polymorphism at rs879255525 led to the substitution ofasparagine for lysine. The haplotype TGAAGCCATTTC was associated with disease onset, whereas the haplotype GGAAGCCATTTC was protective against disease development. In conclusion, weidentified MYOC gene polymorphisms in susceptible regions that were associated withglaucoma onset among the Lahore patient population.This is the first report to identify a novel mutation in rs879255525 in exon 3 of the MYOC genethat is associated withglaucoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Cytoskeletal Proteins / genetics*
  • Exons*
  • Eye Proteins / genetics*
  • Female
  • Genotype
  • Glaucoma / genetics*
  • Glaucoma / pathology
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Risk Factors

Substances

  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein

Grants and funding

The authors are thankful to Vice Chancellor, University of the Punjab, Lahore Pakistan for providing full support to conduct this study. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.