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Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort

  • Azad, Taif A.1
  • Edward, Nikhil B.2
  • Kondkar, Altaf A.1
  • Kalantan, Hatem1
  • Altuwaijri, Saleh3, 4
  • Sultan, Tahira1
  • Al-Mobarak, Faisal A.1
  • Al-Obeidan, Saleh A.1
  • Abu-Amero, Khaled K.1, 5, 6
  • 1 College of Medicine, King Saud University, Glaucoma Research Chair, Department of Ophthalmology, Riyadh, 11411, Saudi Arabia , Riyadh (Saudi Arabia)
  • 2 Case Western Reserve University, Ohio, USA , Ohio (United States)
  • 3 Clinical Research Lab., SAAD Specialist Hospital, SAAD Research & Development Center, Al Khobar, 31952, Saudi Arabia , Al Khobar (Saudi Arabia)
  • 4 Qassim University, Buraydah, Saudi Arabia , Buraydah (Saudi Arabia)
  • 5 University of Illinois at Chicago, Department of Ophthalmology and Visual Sciences, Chicago, IL, USA , Chicago (United States)
  • 6 College of Medicine, King Saud University, Ophthalmic Genetics Laboratory, Department of Ophthalmology, Riyadh, 11411, Saudi Arabia , Riyadh (Saudi Arabia)
Published Article
Journal of Negative Results in BioMedicine
BioMed Central
Publication Date
Jun 26, 2017
DOI: 10.1186/s12952-017-0077-0
Springer Nature


BackgroundTo investigate the association between polymorphism rs547984, located in close proximity to the Zona Pellucida Glycoprotein 4 (ZP4) gene on human chromosome 1q43 and primary open angle glaucoma (POAG).MethodPolymorphism rs547984 was genotyped using Taq-Man® assay in 185 subjects comprising of 90 unrelated POAG cases and 95 controls of Saudi origin.ResultsAssociation analysis between cases and controls revealed no significant genotype distribution under additive (p = 0.356), dominant (p = 0.517) and recessive (p = 0.309) models. Besides, the allele frequency distribution was also found to be non-significant (p = 0.70). The minor “A” allele frequency was found to be 0.49 and 0.50 among POAG cases and controls, respectively. In addition, specific clinical indices used to assess severity of glaucoma such as intraocular pressure (IOP), cup/disc ratio and number of anti-glaucoma medication also did not show any significant genotype distribution in POAG cases.ConclusionPolymorphism rs547984 is neither associated with any clinical indices important for POAG such as IOP and cup/disc ratio nor is a risk factor for POAG in the Saudi cohort.

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