Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma.
OBJECTIVE
To investigate the association between the rs1900004 polymorphism in the atonal bHLH transcription factor 7 (ATOH7) gene and primary open angle glaucoma (POAG) in Saudi patients.


METHODS
Eighty-seven unrelated POAG cases and 94 unrelated control subjects of Saudi origin were genotyped utilizing a TaqMan®assay. The association between mutant genotypes and POAG and its related clinical indices was investigated.


RESULTS
The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with POAG compared to controls. The minor allele frequency was 0.32 in both cases and controls. None of the demographic, systemic diseases nor glaucoma-specific clinical indices such as intraocular pressure (IOP), cup/disc ratio, and number of antiglaucoma medication, showed any significant association with genotypes. Binary logistic regression analysis (adjusted for age and gender) showed that age was a marginally significant risk factor for the development of glaucoma (adjusted odds ratio = 1.1; 95% confidence interval = 1.079-1.158; p < 0.0001).


CONCLUSIONS
The study did not detect any direct link between genotype/allele frequency of rs1900004 in ATOH7 and POAG or its related clinical indices such as IOP and cup/disc ratio indicating that this polymorphism is not a risk factor for POAG in a Saudi cohort.
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
Altaf A
AA
Kondkar
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
Ahmed
A
Mousa
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
Taif A
TA
Azad
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
Tahira
T
Sultan
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
Faisal A
FA
Almobarak
3 National Center for Stem Cell Technology (NCSCT), Life Sciences and Environmental Research Institute , King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia .
Abdullah
A
Alawad
4 SAAD Research & Development Center, Clinical Research Lab., SAAD Specialist Hospital , Al Khobar, Saudi Arabia .|5 Qassim University , Buraydah, Saudi Arabia .
Saleh
S
Altuwaijri
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .
Saleh A
SA
Al-Obeidan
1 Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|2 Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University , Riyadh, Saudi Arabia .|6 Department of Ophthalmology, College of Medicine , Jacksonville, Florida.
Khaled K
KK
Abu-Amero
D000328:Adult; D000368:Aged; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D007429:Intraocular Pressure / Q000502:physiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012529:Saudi Arabia
D051792:Basic Helix-Loop-Helix Proteins; C456975:ATOH7 protein, human
ATOH7; Saudi Arabia; primary open angle glaucoma; rs1900004