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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1997 Feb;60(2):296–304.

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

M K Wirtz 1, J R Samples 1, P L Kramer 1, K Rust 1, J R Topinka 1, J Yount 1, R D Koler 1, T S Acott 1
PMCID: PMC1712411  PMID: 9012402

Abstract

Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C.

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Selected References

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  1. Ala-Kapee M., Nevanlinna H., Mali M., Jalkanen M., Schröder J. Localization of gene for human syndecan, an integral membrane proteoglycan and a matrix receptor, to chromosome 2. Somat Cell Mol Genet. 1990 Sep;16(5):501–505. doi: 10.1007/BF01233200. [DOI] [PubMed] [Google Scholar]
  2. Armaly M. F. Genetic determination of cup/disc ratio of the optic nerve. Arch Ophthalmol. 1967 Jul;78(1):35–43. doi: 10.1001/archopht.1967.00980030037007. [DOI] [PubMed] [Google Scholar]
  3. Barker P. E., Shipp M. A., D'Adamio L., Masteller E. L., Reinherz E. L. The common acute lymphoblastic leukemia antigen gene maps to chromosomal region 3 (q21-q27). J Immunol. 1989 Jan 1;142(1):283–287. [PubMed] [Google Scholar]
  4. Bengtsson B. The prevalence of glaucoma. Br J Ophthalmol. 1981 Jan;65(1):46–49. doi: 10.1136/bjo.65.1.46. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Breviario F., d'Aniello E. M., Golay J., Peri G., Bottazzi B., Bairoch A., Saccone S., Marzella R., Predazzi V., Rocchi M. Interleukin-1-inducible genes in endothelial cells. Cloning of a new gene related to C-reactive protein and serum amyloid P component. J Biol Chem. 1992 Nov 5;267(31):22190–22197. [PubMed] [Google Scholar]
  6. Cottingham R. W., Jr, Idury R. M., Schäffer A. A. Faster sequential genetic linkage computations. Am J Hum Genet. 1993 Jul;53(1):252–263. [PMC free article] [PubMed] [Google Scholar]
  7. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  8. François J. Genetics and primary open-angle glaucoma. Am J Ophthalmol. 1966 Apr;61(4):652–665. doi: 10.1016/0002-9394(66)91201-3. [DOI] [PubMed] [Google Scholar]
  9. Gastier J. M., Pulido J. C., Sunden S., Brody T., Buetow K. H., Murray J. C., Weber J. L., Hudson T. J., Sheffield V. C., Duyk G. M. Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. Hum Mol Genet. 1995 Oct;4(10):1829–1836. doi: 10.1093/hmg/4.10.1829. [DOI] [PubMed] [Google Scholar]
  10. Gaughan G., Park H., Priddle J., Craig I., Craig S. Refinement of the localization of human butyrylcholinesterase to chromosome 3q26.1-q26.2 using a PCR-derived probe. Genomics. 1991 Oct;11(2):455–458. doi: 10.1016/0888-7543(91)90155-8. [DOI] [PubMed] [Google Scholar]
  11. Graff C., Urbak S. F., Jerndal T., Wadelius C. Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. Hum Genet. 1995 Sep;96(3):285–289. doi: 10.1007/BF00210408. [DOI] [PubMed] [Google Scholar]
  12. Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
  13. Hitchings R. A., Wheeler C. A. The optic disc in glaucoma. IV: Optic disc evaluation in the ocular hypertensive patient. Br J Ophthalmol. 1980 Apr;64(4):232–239. doi: 10.1136/bjo.64.4.232. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hollows F. C., Graham P. A. Intra-ocular pressure, glaucoma, and glaucoma suspects in a defined population. Br J Ophthalmol. 1966 Oct;50(10):570–586. doi: 10.1136/bjo.50.10.570. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Iozzo R. V., Naso M. F., Cannizzaro L. A., Wasmuth J. J., McPherson J. D. Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14). Genomics. 1992 Dec;14(4):845–851. doi: 10.1016/s0888-7543(05)80103-x. [DOI] [PubMed] [Google Scholar]
  16. Johnson A. T., Richards J. E., Boehnke M., Stringham H. M., Herman S. B., Wong D. J., Lichter P. R. Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalmology. 1996 May;103(5):808–814. doi: 10.1016/s0161-6420(96)30611-8. [DOI] [PubMed] [Google Scholar]
  17. KELLERMAN L., POSNER A. The value of heredity in the detection and study of glaucoma. Am J Ophthalmol. 1955 Nov;40(5 Pt 1):681–685. doi: 10.1016/0002-9394(55)91495-1. [DOI] [PubMed] [Google Scholar]
  18. Kahn H. A., Milton R. C. Alternative definitions of open-angle glaucoma. Effect on prevalence and associations in the Framingham eye study. Arch Ophthalmol. 1980 Dec;98(12):2172–2177. doi: 10.1001/archopht.1980.01020041024003. [DOI] [PubMed] [Google Scholar]
  19. Kallunki P., Eddy R. L., Byers M. G., Kestilä M., Shows T. B., Tryggvason K. Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1----p35 and identification of a BamHI restriction fragment length polymorphism. Genomics. 1991 Oct;11(2):389–396. doi: 10.1016/0888-7543(91)90147-7. [DOI] [PubMed] [Google Scholar]
  20. Lichter P. R. Genetic clues to glaucoma's secrets. The L Edward Jackson Memorial Lecture. Part 2. Am J Ophthalmol. 1994 Jun 15;117(6):706–727. doi: 10.1016/s0002-9394(14)70314-9. [DOI] [PubMed] [Google Scholar]
  21. Litt M., Hauge X., Sharma V. Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures. Biotechniques. 1993 Aug;15(2):280–284. [PubMed] [Google Scholar]
  22. Meyer A., Valtot F., Béchetoille A., Rouland J. F., Dascotte J. C., Férec C., Bach J. F., Chaventré A., Garchon H. J. Liaison du glaucome juvénile au chromosome 1q dans deux familles françaises. C R Acad Sci III. 1994 Jun;317(6):565–570. [PubMed] [Google Scholar]
  23. Morissette J., Côté G., Anctil J. L., Plante M., Amyot M., Héon E., Trope G. E., Weissenbach J., Raymond V. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am J Hum Genet. 1995 Jun;56(6):1431–1442. [PMC free article] [PubMed] [Google Scholar]
  24. Murray J. C., Buetow K. H., Weber J. L., Ludwigsen S., Scherpbier-Heddema T., Manion F., Quillen J., Sheffield V. C., Sunden S., Duyk G. M. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science. 1994 Sep 30;265(5181):2049–2054. doi: 10.1126/science.8091227. [DOI] [PubMed] [Google Scholar]
  25. O'Connell J. R., Weeks D. E. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet. 1995 Dec;11(4):402–408. doi: 10.1038/ng1295-402. [DOI] [PubMed] [Google Scholar]
  26. Pohjanpelto P. E., Palva J. Ocular hypertension and glaucomatous optic nerve damage. Acta Ophthalmol (Copenh) 1974;52(2):194–200. doi: 10.1111/j.1755-3768.1974.tb00367.x. [DOI] [PubMed] [Google Scholar]
  27. Pollak M. R., Chou Y. H., Cerda J. J., Steinmann B., La Du B. N., Seidman J. G., Seidman C. E. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet. 1993 Oct;5(2):201–204. doi: 10.1038/ng1093-201. [DOI] [PubMed] [Google Scholar]
  28. Pulkkinen L., Alitalo T., Krusius T., Peltonen L. Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN). Cytogenet Cell Genet. 1992;60(2):107–111. doi: 10.1159/000133314. [DOI] [PubMed] [Google Scholar]
  29. Richards J. E., Lichter P. R., Boehnke M., Uro J. L., Torrez D., Wong D., Johnson A. T. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq. Am J Hum Genet. 1994 Jan;54(1):62–70. [PMC free article] [PubMed] [Google Scholar]
  30. Rolfs A., Weber-Rolfs I., Regitz-Zagrosek V., Kallisch H., Riedel K., Fleck E. Genetic polymorphisms of the angiotensin II type 1 (AT1) receptor gene. Eur Heart J. 1994 Dec;15 (Suppl 500):108–112. doi: 10.1093/eurheartj/15.suppl_d.108. [DOI] [PubMed] [Google Scholar]
  31. Schäffer A. A., Gupta S. K., Shriram K., Cottingham R. W., Jr Avoiding recomputation in linkage analysis. Hum Hered. 1994 Jul-Aug;44(4):225–237. doi: 10.1159/000154222. [DOI] [PubMed] [Google Scholar]
  32. Sheffield V. C., Stone E. M., Alward W. L., Drack A. V., Johnson A. T., Streb L. M., Nichols B. E. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993 May;4(1):47–50. doi: 10.1038/ng0593-47. [DOI] [PubMed] [Google Scholar]
  33. Sheffield V. C., Weber J. L., Buetow K. H., Murray J. C., Even D. A., Wiles K., Gastier J. M., Pulido J. C., Yandava C., Sunden S. L. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet. 1995 Oct;4(10):1837–1844. doi: 10.1093/hmg/4.10.1837. [DOI] [PubMed] [Google Scholar]
  34. Sheffield V. C., Weber J. L., Buetow K. H., Murray J. C., Even D. A., Wiles K., Gastier J. M., Pulido J. C., Yandava C., Sunden S. L. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet. 1995 Oct;4(10):1837–1844. doi: 10.1093/hmg/4.10.1837. [DOI] [PubMed] [Google Scholar]
  35. Shin D. H., Becker B., Kolker A. E. Family history in primary open-angle glaucoma. Arch Ophthalmol. 1977 Apr;95(4):598–600. doi: 10.1001/archopht.1977.04450040064007. [DOI] [PubMed] [Google Scholar]
  36. Shipp M. A., Look A. T. Hematopoietic differentiation antigens that are membrane-associated enzymes: cutting is the key! Blood. 1993 Aug 15;82(4):1052–1070. [PubMed] [Google Scholar]
  37. Sieburth D., Jabs E. W., Warrington J. A., Li X., Lasota J., LaForgia S., Kelleher K., Huebner K., Wasmuth J. J., Wolf S. F. Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. Genomics. 1992 Sep;14(1):59–62. doi: 10.1016/s0888-7543(05)80283-6. [DOI] [PubMed] [Google Scholar]
  38. Stoilova D., Child A., Trifan O. C., Crick R. P., Coakes R. L., Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 1996 Aug 15;36(1):142–150. doi: 10.1006/geno.1996.0434. [DOI] [PubMed] [Google Scholar]
  39. Suzukawa K., Parganas E., Gajjar A., Abe T., Takahashi S., Tani K., Asano S., Asou H., Kamada N., Yokota J. Identification of a breakpoint cluster region 3' of the ribophorin I gene at 3q21 associated with the transcriptional activation of the EVI1 gene in acute myelogenous leukemias with inv(3)(q21q26). Blood. 1994 Oct 15;84(8):2681–2688. [PubMed] [Google Scholar]
  40. Teikari J. M. Genetic factors in open-angle (simple and capsular) glaucoma. A population-based twin study. Acta Ophthalmol (Copenh) 1987 Dec;65(6):715–720. doi: 10.1111/j.1755-3768.1987.tb07069.x. [DOI] [PubMed] [Google Scholar]
  41. Tielsch J. M., Katz J., Sommer A., Quigley H. A., Javitt J. C. Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. Arch Ophthalmol. 1994 Jan;112(1):69–73. doi: 10.1001/archopht.1994.01090130079022. [DOI] [PubMed] [Google Scholar]
  42. Wiggs J. L., Haines J. L., Paglinauan C., Fine A., Sporn C., Lou D. Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics. 1994 May 15;21(2):299–303. doi: 10.1006/geno.1994.1269. [DOI] [PubMed] [Google Scholar]
  43. Wolfensberger T. J., Singer D. R., Freegard T., Markandu N. D., Buckley M. G., MacGregor G. A. Evidence for a new role of natriuretic peptides: control of intraocular pressure. Br J Ophthalmol. 1994 Jun;78(6):446–448. doi: 10.1136/bjo.78.6.446. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Yang F., Lum J. B., McGill J. R., Moore C. M., Naylor S. L., van Bragt P. H., Baldwin W. D., Bowman B. H. Human transferrin: cDNA characterization and chromosomal localization. Proc Natl Acad Sci U S A. 1984 May;81(9):2752–2756. doi: 10.1073/pnas.81.9.2752. [DOI] [PMC free article] [PubMed] [Google Scholar]

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