BMC Res Notes. 2017 Nov 29;10(1):652. doi: 10.1186/s13104-017-2996-8.

Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort.

Kalantan H¹, Kondkar AA¹, Sultan T¹, Azad TA¹, Alsabaani NA², AlQahtani MA³, Almummar A¹, Liu Y⁴, Abu-Amero KK^5,^6,⁷.

Author information

1: Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, 11411, Saudi Arabia.
2: Ophthalmology Department, College of Medicine, King Khalid University, P.O. Box 641, Abha, 61421, Saudi Arabia.
3: Assir Central Hospital, P. O. Box 35, Abha, 61421, Saudi Arabia.
4: Augusta University, 1460 Laney Walker Blvd, CB1123, Augusta, GA, 30912, USA.
5: Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, 11411, Saudi Arabia. abuamero@gmail.com.
6: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, 60612, USA. abuamero@gmail.com.
7: Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh, 11411, Saudi Arabia. abuamero@gmail.com.

Abstract

OBJECTIVE:

Polymorphism rs13334190 in the zinc finger protein 469 gene has been suggested to predispose toward a "thin" cornea, which then becomes keratoconic or is directly pathogenic. Thus, we genotyped polymorphism rs13334190 in 127 unrelated keratoconus cases and 168 control subjects from Saudi Arabia using Taq-Man^® assay.

RESULTS:

The genotype frequency distribution did not deviate significantly from the Hardy-Weinberg equilibrium (p > 0.05). Overall, both the genotype and allele frequencies were not significantly different between cases and controls. A minor allele frequency of 0.068 was comparable to the aggregate rates ranging from 0.060 to 0.086 observed in other populations. Binary logistic regression analysis was performed to ascertain the effects of age, gender and genotype on the likelihood of having keratoconus. The analysis indicated that increased age was statistically significant (p = 0.000) and that females have a 2.19-fold increased risk (p = 0.018) of developing keratoconus. The genotype frequencies did not differ between the sporadic or familial keratoconus cases. Polymorphism rs13334190 is not an independent risk factor for keratoconus in the Saudi cohort.