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

  • Seung-Hyun Jung
  • Young Chun Lee
  • Mee Yon Lee
  • Hye-Young ShinEmail author
Glaucoma

Abstract

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.

Keywords

Genotyping Hexokinase 2 Non-catalytic region of tyrosine kinase adaptor protein 2 Normal-tension glaucoma Single nucleotide polymorphism South Korea 

Notes

Author contributions

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

Funding

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.

Ethical approval

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

Informed consent was obtained from all individual participants included in the study.

Supplementary material

417_2019_4467_MOESM1_ESM.docx (27 kb)
ESM 1 (DOCX 27 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Cancer Evolution Research Center, College of MedicineThe Catholic University of KoreaSeoulRepublic of Korea
  2. 2.Department of Ophthalmology, Uijeongbu St. Mary’s Hospital, College of MedicineThe Catholic University of KoreaUijeongbu-siRepublic of Korea

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