Association of HK2 and NCK2 with normal-tension glaucoma in a population from the Republic of Korea

• Published in: Graefe's archive for clinical and experimental ophthalmology 2019-12, Vol.257 (12), p.2717-2721
• Main Authors: Jung, Seung-Hyun, Lee, Young Chun, Lee, Mee Yon, Shin, Hye-Young
• Format: Article
• Language: English
• Subjects: Alleles; Gene frequency; Gene polymorphism; Genes; Glaucoma; Medicine; Medicine & Public Health; Ophthalmology; Statistical analysis
• ISSN: 0721-832X; 1435-702X
• DOI: 10.1007/s00417-019-04467-z

Background Previous studies have reported the association of HK2 and NCK2 genes with normal-tension glaucoma (NTG) in Japan, but there has been no follow-up study in other countries, so the relevance of these genes to NTG appears uncertain at present. Thus, we investigated the relationship between the HK2 and NCK2 genes and NTG in a Korean NTG cohort. Methods In total, 154 unrelated Korean patients with NTG and 101 normal Korean controls were recruited. Thus, a total of 255 participants were analyzed for NCK2 ( rs2033008 ) and HK2 ( rs678350 ) gene polymorphisms. Results The minor allele frequency (MAF) of rs678350 was significantly higher in NTG patients (MAF = 0.32) than in controls (MAF = 0.23) (OR, 1.586; 95% CI, 1.058 to 2.375; P  = 0.028). This trend was more significant in the dominant model (OR, 1.908; 95% CI, 1.144 to 3.180; P  = 0.015). When we performed logistic regression analysis to adjust for age, both the allelic and dominant models were still statistically significant. No significant difference was observed in rs2033008 allele or genotype frequencies between the NTG patients and control subjects. Conclusions The current study suggested that HK2 gene polymorphism may contribute to the genetic susceptibility to NTG.