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Microsatellite analysis of the GLC1B locus on chromosome 2 points to NCK2 as a new candidate gene for normal tension glaucoma
  1. M Akiyama1,
  2. K Yatsu2,3,
  3. M Ota4,
  4. Y Katsuyama5,
  5. K Kashiwagi6,
  6. F Mabuchi6,
  7. H Iijima6,
  8. K Kawase7,
  9. T Yamamoto7,
  10. M Nakamura8,
  11. A Negi8,
  12. T Sagara9,
  13. N Kumagai9,
  14. T Nishida9,
  15. M Inatani10,
  16. H Tanihara10,
  17. S Ohno11,
  18. H Inoko3,
  19. N Mizuki1
  1. 1
    Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Japan
  2. 2
    Department of Nephrology, Yokohama City University Medical Center, Yokohama, Japan
  3. 3
    Department of Molecular Life Science, Course of Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Japan
  4. 4
    Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan
  5. 5
    Department of Pharmacy, Shinshu University Hospital, Matsumoto, Japan
  6. 6
    Department of Ophthalmology, University of Yamanashi, Faculty of Medicine, Yamanashi, Japan
  7. 7
    Department of Ophthalmology, Gifu University Graduate School of Medicine, Gifu, Japan
  8. 8
    Division of Ophthalmology, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan
  9. 9
    Department of Ophthalmology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan
  10. 10
    Department of Ophthalmology and Visual Science, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan
  11. 11
    Department of Ophthalmology and Visual Sciences, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  1. Professor N Mizuki, Department of Ophthalmology, Yokohama City University School of Medicine, Fukuura 3–9, Kanazawa-ku, Yokohama 236-0004, Japan; mizunobu{at}


Aims: The aim of this study was to investigate the association between normal tension glaucoma and the candidate disease locus glaucoma 1, open angle, B (GLC1B) on chromosome 2. There are many reports describing the results of association or linkage studies for primary open angle glaucoma (POAG), with GLC1B as one of the loci associated with normal or moderately elevated intraocular pressure. However, there are few reports about the association of genes or defined genomic regions with normal tension glaucoma, which is the leading type of glaucoma in Japan. The GLC1B locus is hypothesized to be a causative region for normal tension glaucoma.

Methods: Genomic DNA was extracted from whole blood of normal tension glaucoma (n = 143) and healthy controls (n = 103) of Japanese origin.

Results: Fifteen microsatellite markers within and/or near to the GLC1B locus were genotyped, and their association with normal tension glaucoma was analysed. Two markers D2S2264 and D2S176 had significant positive associations.

Conclusion: The D2S176 marker had the strongest significant association and it is located 24 kb from the nearest gene NCK2, which now becomes an important new candidate gene for future studies of its association with normal tension glaucoma.

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  • ▸ Additional data are published online only at

  • Funding: This work was supported by a grant from the Ministry of Health, Labour and Welfare, Japan (H18-Kankaku-Ippan-004).

  • Competing interests: None.

  • Ethics approval: Experimental procedures were approved by the relevant ethical committee in each participating university and centre.

  • Patient consent: Obtained.

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