Abstract
Purpose :
To investigate whether the Zinc Finger Protein gene (ZNF469) is a candidate gene in the pathogenesis of keratoconus in Korean, we performed sequencing screening of ZNF469 gene in Keratoconus patients
Methods :
One hundred fifty patients with sporadic Keratoconus, which visited the Eye Center of Seoul St. Mary’s Hospital and 100 control individuals were enrolled into this study. To screen genetic variations in ZNF469, we investigated using polymerase chain reaction and direct sequencing. The Sorting Intolerant Form Tolerant (SIFT) program was used to predict the effect of amino acid substitution on the ZNF469 protein
Results :
In this study, we detected 16 non-synonymous variations and 8 synonymous variations. Among them, 5 non-synonymous variations, G1279S, E1591K, E2149K, G2284E, P2427S, and three synonymous variations, G1131G, S1614S, A1621A were observed only keratoconus patients. Particularly, two novel mutations in ZNF469, G2284E and P2427S were detected in 20.8% and 1.7% of keratoconus patients and were predicted as damaging mutations by computational methods using SIFT. Fourteen SNPs were observed both populations, among them, the C allele of the G2358R was associated with increased occurrence of keratoconus, while the C allele of the T1859T and the A allele of the E630Q was correlated with a decreased occurrence of keratoconus.
Conclusions :
This is the first report of genetic variation screening of ZNF469 in Korean Keratoconus patients and our results suggested that non-synonymous variations in ZNF469, particularly G2284E, has a pathogenic role in Korean patients with Keratoconus
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.