Association of HK2 and NCK2 with normal-tension glaucoma in a population from the Republic of Korea
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.
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.
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.
The current study suggested that HK2 gene polymorphism may contribute to the genetic susceptibility to NTG.
KeywordsGenotyping Hexokinase 2 Non-catalytic region of tyrosine kinase adaptor protein 2 Normal-tension glaucoma Single nucleotide polymorphism South Korea
Conceptualization: Seung-Hyun Jung, Mee Yon Lee, Hye-Young Shin
Data collection: Young Chun Lee, Mee Yon Lee, Hye-Young Shin
Formal analysis: Seung-Hyun Jung, Hye-Young Shin
Methodology: Seung-Hyun Jung, Hye-Young Shin
Interpretation of the data: Seung-Hyun Jung, Hye-Young Shin
Funding acquisition: Young Chun Lee, Hye-Young Shin
Supervision and validation: Young Chun Lee, Seung-Hyun Jung, Hye-Young Shin
Writing—original draft: Seung-Hyun Jung, Hye-Young Shin
Writing—review and editing: Seung-Hyun Jung, Young Chun Lee, Mee Yon Lee, Hye-Young Shin
This study was funded by the National Research Foundation of Korea(NRF) grant funded by the Korea government(MSIT) (No. NRF-2018R1D1A1B07047231), the 2018 Cheil-Nammyung Foundation Research Funds, and the Catholic University of Korea Uijeongbu St. Mary’s Hospital Clinical Research Laboratory Foundation made in the program year of 2019 (UJBCRL201823).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the Institutional Review Board of the Uijeongbu St. Mary’s Hospital of Korea and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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