Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

Nature Genetics volume 4, pages 47–50 (1993)Cite this article

Abstract

Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected. Linkage analysis using short tandem repeat markers mapped the disease–causing gene to chromosome 1q21–q31. Eight markers were significantly linked (Zmax > 3.0) to the disease, with the highest lod score 6.5 (θ=0), provided by D1S212. The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Leske, M.C. The epidemiology of open-angle glaucoma: a review. American Journal of Epidemiology 118, 166–191 (1983).

    Article  CAS  PubMed  Google Scholar 

  2. Hoskins, H.D. & Kass, M. Becker-Shaffer's Diagnosis and Therapy of the Glaucomas, 678, C. V. Mosby, St. Louis, 1989).

  3. Harris, D. The inheritance of glaucoma — a pedigree of familial glaucoma. Am. J. Ophthalmol. 60, 91–95 (1965).

    Article  CAS  PubMed  Google Scholar 

  4. Phelps, C.D. & Podos, S.M. Glaucoma: In Genetic and Metabolic Eye Diseases. (ed. Goldberg, M.F.) 237–259 (Little, Brown, Boston, 1974).

    Google Scholar 

  5. Miller, S.J.H. & Paterson, G.D. Studies on glaucoma relatives. Br. J. Ophthalmol. 46, 513–522 (1962).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Leighton, D.A. Survey of the first-degree relatives of glaucoma patients. Trans. Ophthalmol. Soc. U.K. 96, 28–32 (1976).

    CAS  PubMed  Google Scholar 

  7. Francois, J. Genetics and primary open-angle glaucoma. Am. J. Ophthalmol. 61, 652–665 (1966).

    Article  CAS  PubMed  Google Scholar 

  8. Armaly, M.F. The genetic determination of ocular pressure in the normal eye. Arch. Ophthalmol. 78, 187–192 (1967).

    Article  CAS  PubMed  Google Scholar 

  9. Armaly, M.F. The heritable nature of dexamethasone-induced ocular hypertension. Arch. Ophthalmol. 75, 32–35 (1966).

    Article  CAS  PubMed  Google Scholar 

  10. Armaly, M.F., Monstavicius, B.F. & Sayegh, R.E. Ocular pressure and aqueous outflow facility in siblings. Arch. Ophthalmol. 80, 354–360 (1968).

    Article  CAS  PubMed  Google Scholar 

  11. Armaly, M.F. Genetic determination of cup/disc ratio of the optic nerve. Arch. Ophthalmol. 78, 5–43 (1967).

    Google Scholar 

  12. Waardenburg, P.J. Über das familiäre Vorommen und den Erbgang des präsenilen und senilen Glaukoms. Genetica 25, 79–129 (1950).

    Article  CAS  PubMed  Google Scholar 

  13. Biro', I. Notes upon the question of hereditary glaucoma. Ophthalmologica 122, 228–238 (1951).

    Article  CAS  Google Scholar 

  14. Johnson, A.T. et al. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 100, 524–529 (1993).

    Article  CAS  PubMed  Google Scholar 

  15. Murray, J.C. et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nature Genet. 2, 46–49 (1992).

    Article  CAS  PubMed  Google Scholar 

  16. Sheffield, V.C., Cox, D.R. & Myers, R.M. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. natn. Acad. Sci. U.S.A. 86, 232–236 (1989).

    Article  CAS  Google Scholar 

  17. Orita, M., Iwahara, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc. natn. Acad. Sci. U.S.A. 86, 2766–2770 (1989).

    Article  CAS  Google Scholar 

  18. Needleman, P. & Greenwald, J.E. Atriopeptin: a cardiac hormone intimately involved in fluid, electrolyte & blood pressure homeostasis. New Engl. J. Med. 314, 828 (1986).

    Article  CAS  PubMed  Google Scholar 

  19. Inagami, T. Atrial natriuretic factor. J. biol. Chem. 264, 3043–3046 (1989).

    CAS  PubMed  Google Scholar 

  20. Garbers, D.L. Guanylate cyclase, a cell surface receptor. J. biol. Chem. 264, 9103–9106 (1989).

    CAS  PubMed  Google Scholar 

  21. Lowe, D.G. et al. Human atrial natriuretic peptide receptor defines a new paradigm for second messenger signal transduction. EMBO J. 8, 1377–1384 (1989).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Chang, M.S. et al. Differential activation by atrial and brain natriuretic peptides of two different receptor guanylate cyclases. Nature 341, 68–72 (1989).

    Article  CAS  PubMed  Google Scholar 

  23. Fuller, F. et al. Atrial natriuretic peptide clearance receptor complete sequence and functional expression of cDNA clones. J. biol. Chem. 263, 9395–9401 (1988).

    CAS  PubMed  Google Scholar 

  24. De Bold, A.J. Atrial natriuretic factor: a hormone produced by the heart. Science 230, 767–770 (1985).

    Article  CAS  PubMed  Google Scholar 

  25. Quirion, R. et al. Atrial natriuretic factor (ANF) binding sites in brain and related structures. Peptides 5, 1167–1172 (1984).

    Article  CAS  PubMed  Google Scholar 

  26. Gutkowska, J., Nemer, M. Structure, expression, and function of atrial natriuretic factor in extraatrial tissues. Endocr. Rev. 10, 519–536 (1989).

    Article  CAS  PubMed  Google Scholar 

  27. Bianchi, C. et al. Localization and characterization of specific receptors for atrial natriuretic factor in the ciliary processes of the eye. Curr. Eye Res. 5, 283 (1986).

    Article  CAS  PubMed  Google Scholar 

  28. Fernandez-Durango, R. et al. Immunoreactive atrial natriuretic factor in aqueous humor: its concentration is increased with high intraocular pressure in rabbit eyes. Vision Res. 30(9), 1305–1310 (1990).

    Article  Google Scholar 

  29. Fernandez-Durango, R. et al. Experimental glaucoma significantly decreases atrial natriuretic factor (ANF) receptors in the ciliary processes of the rabbit eye. Exp. Eye Res. 53, 591–596 (1991).

    Article  CAS  PubMed  Google Scholar 

  30. Diestelhorst, M. & Krieglstein, G.K. The intraocular pressure response of human atrial natriuretic factor in glaucoma. Int. Ophthalmol. 13, 99–101 (1989).

    Article  CAS  PubMed  Google Scholar 

  31. Lowe, D.G., Klisak, I., Sparkes, R.S., Mohandas, R. & Goeddel, D.V. Chromosomal distribution of three members of the human natriuretic peptide receptor/guanylyl cyclase gene family. Genomics 8, 304–312 (1990).

    Article  CAS  PubMed  Google Scholar 

  32. Grimberg, J. et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucl. Acids Res. 17, 8390 (1989).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Nichols, B.E., Stone, E.M. & Sheffield, V.C. A user-friendly Macintosh interface for DOS-based linkage analysis. Am. J. hum. Genet. 51, A369 (1992).

    Google Scholar 

  34. Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460–465 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  35. Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–801 (1992).

    Article  CAS  PubMed  Google Scholar 

  36. Sharma, V. & Litt, M. Dinucleotide repeat polymorphism at the D1S117 locus. Nucl. Acids Res. 19, 1168 (1991).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Weber, J.L., Kwitek, A.E. & May, P.E. Dinucleotide repeat polymorphism at the D1S104 locus. Nucl. Acids Res. 18, 2835 (1990).

    PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, 52242, USA

    Val C. Sheffield

  2. Department of Ophthalmology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, 52242, USA

    Edwin M. Stone, Wallace L.M. Alward, Arlene V. Drack, A. Tim Johnson, Luan M. Streb & Brian E. Nichols

Authors
  1. Val C. Sheffield
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Edwin M. Stone
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Wallace L.M. Alward
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Arlene V. Drack
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. Tim Johnson
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Luan M. Streb
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Brian E. Nichols
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Sheffield, V., Stone, E., Alward, W. et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31. Nat Genet 4, 47–50 (1993). https://doi.org/10.1038/ng0593-47

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0593-47

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing