Skip to main content
PMC home page
Journal of the National Medical Association logoLink to Journal of the National Medical Association
. 2007 May;99(5):559–563.

Inherited, familial and sporadic primary open-angle glaucoma.

Gordon Gong 1, Sade Kosoko-Lasaki 1, Gleb Haynatzki 1, Henry T Lynch 1, Jane A Lynch 1, M Roy Wilson 1
PMCID: PMC2576058  PMID: 17534014

Abstract

The U.S. surgeon general has recently launched a campaign to promote the awareness of the medical value of family history. Further attention should be paid to familial aggregation. Accordingly, we suggest that primary open-angle glaucoma (POAG) be classified into inherited, familial and sporadic categories. The three classes of POAG differ not only in inheritance pattern and familial aggregation but also in methodology and outcome of gene mapping. Inherited POAG follows Mendelian inheritance and has been linked to seven chromosomal loci to date by linkage analysis. Familial POAG does not show a clear pattern of Mendelian inheritance and is typically studied by sib-pair analysis and family-based association analysis, although the results often require replication in multiple samples. Interestingly, many sporadic POAG cases carry known POAG-causing mutations, suggesting genetic predisposition as well. Based on published data, we estimated that inherited and familial POAG cases may account for approximately 72% of all POAG cases. We further formulated a mathematic model to estimate disease prevalence and mutation frequency taking both ethnic background and familial aggregation into consideration. CONCLUSION: POAG appears to be mainly caused by genetic predisposition in interaction with other risk factors such as age. The suggested classification of POAG may serve as a useful guide in clinical practice and genetic studies where ethnic background and familial aggregation must be taken into consideration.

Full text

PDF
560

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Altmüller J., Palmer L. J., Fischer G., Scherb H., Wjst M. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet. 2001 Sep 14;69(5):936–950. doi: 10.1086/324069. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Aung Tin, Rezaie Tayebeh, Okada Koji, Viswanathan Ananth C., Child Anne H., Brice Glen, Bhattacharya Shomi S., Lehmann Ordan J., Sarfarazi Mansoor, Hitchings Roger A. Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2816–2822. doi: 10.1167/iovs.04-1133. [DOI] [PubMed] [Google Scholar]
  3. Duggal Priya, Klein Alison P., Lee Kristine E., Iyengar Sudha K., Klein Ronald, Bailey-Wilson Joan E., Klein Barbara E. K. A genetic contribution to intraocular pressure: the beaver dam eye study. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):555–560. doi: 10.1167/iovs.04-0729. [DOI] [PubMed] [Google Scholar]
  4. Fingert J. H., Héon E., Liebmann J. M., Yamamoto T., Craig J. E., Rait J., Kawase K., Hoh S. T., Buys Y. M., Dickinson J. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999 May;8(5):899–905. doi: 10.1093/hmg/8.5.899. [DOI] [PubMed] [Google Scholar]
  5. Fingert John H., Stone Edwin M., Sheffield Val C., Alward Wallace L. M. Myocilin glaucoma. Surv Ophthalmol. 2002 Nov-Dec;47(6):547–561. doi: 10.1016/s0039-6257(02)00353-3. [DOI] [PubMed] [Google Scholar]
  6. Guttmacher Alan E., Collins Francis S., Carmona Richard H. The family history--more important than ever. N Engl J Med. 2004 Nov 25;351(22):2333–2336. doi: 10.1056/NEJMsb042979. [DOI] [PubMed] [Google Scholar]
  7. Ikezoe Takayuki, Takeuchit Seisho, Komatsu Naoki, Okada Miyuki, Fukushima Atsuki, Ueno Hisayuki, Koeffler H. Phillip, Taguchi Hirokuni. Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan. Int J Mol Med. 2003 Aug;12(2):259–261. [PubMed] [Google Scholar]
  8. Jonsson Björn-Anders, Adami Hans-Olov, Hägglund Maria, Bergh Anders, Göransson Ingela, Stattin Pär, Wiklund Fredrik, Grönberg Henrik. -160C/A polymorphism in the E-cadherin gene promoter and risk of hereditary, familial and sporadic prostate cancer. Int J Cancer. 2004 Apr 10;109(3):348–352. doi: 10.1002/ijc.11629. [DOI] [PubMed] [Google Scholar]
  9. Leung Yuk Fai, Fan Bao Jian, Lam Dennis S. C., Lee Wing Shan, Tam Pancy O. S., Chua John K. H., Tham Clement C. Y., Lai Jimmy S. M., Fan Dorothy S. P., Pang Chi Pui. Different optineurin mutation pattern in primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):3880–3884. doi: 10.1167/iovs.02-0693. [DOI] [PubMed] [Google Scholar]
  10. Lonjou C., Collins A., Morton N. E. Allelic association between marker loci. Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1621–1626. doi: 10.1073/pnas.96.4.1621. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Lynch H. T., Watson P., Smyrk T. C., Lanspa S. J., Boman B. M., Boland C. R., Lynch J. F., Cavalieri R. J., Leppert M., White R. Colon cancer genetics. Cancer. 1992 Sep 1;70(5 Suppl):1300–1312. doi: 10.1002/1097-0142(19920901)70:3+<1300::aid-cncr2820701517>3.0.co;2-o. [DOI] [PubMed] [Google Scholar]
  12. McNaught A. I., Allen J. G., Healey D. L., McCartney P. J., Coote M. A., Wong T. L., Craig J. E., Green C. M., Rait J. L., Mackey D. A. Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania. Arch Ophthalmol. 2000 Jul;118(7):900–904. [PubMed] [Google Scholar]
  13. Morton N. E. Significance levels in complex inheritance. Am J Hum Genet. 1998 Mar;62(3):690–697. doi: 10.1086/301741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Mukhopadhyay Arijit, Acharya Moulinath, Mukherjee Saibal, Ray Jharna, Choudhury Sumit, Khan Mita, Ray Kunal. Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol Vis. 2002 Nov 15;8:442–448. [PubMed] [Google Scholar]
  15. Nemesure Barbara, Jiao Xiaodong, He Qimei, Leske M. Cristina, Wu Suh-Yuh, Hennis Anselm, Mendell Nancy, Redman Joy, Garchon Henri-Jean, Agarwala Richa. A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum Genet. 2003 Mar 4;112(5-6):600–609. doi: 10.1007/s00439-003-0910-z. [DOI] [PubMed] [Google Scholar]
  16. Quigley H. A. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996 May;80(5):389–393. doi: 10.1136/bjo.80.5.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. 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]
  18. 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]
  19. Stone E. M., Fingert J. H., Alward W. L., Nguyen T. D., Polansky J. R., Sunden S. L., Nishimura D., Clark A. F., Nystuen A., Nichols B. E. Identification of a gene that causes primary open angle glaucoma. Science. 1997 Jan 31;275(5300):668–670. doi: 10.1126/science.275.5300.668. [DOI] [PubMed] [Google Scholar]
  20. Suzuki Y., Shirato S., Taniguchi F., Ohara K., Nishimaki K., Ohta S. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet. 1997 Nov;61(5):1202–1204. doi: 10.1086/301612. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Tielsch J. M., Sommer A., Katz J., Royall R. M., Quigley H. A., Javitt J. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA. 1991 Jul 17;266(3):369–374. [PubMed] [Google Scholar]
  22. Tsubota K., Kaido M., Monden Y., Satake Y., Bissen-Miyajima H., Shimazaki J. A new surgical technique for deep lamellar keratoplasty with single running suture adjustment. Am J Ophthalmol. 1998 Jul;126(1):1–8. doi: 10.1016/s0002-9394(98)00067-1. [DOI] [PubMed] [Google Scholar]
  23. Uhm K. B., Shin D. H. Positive family history of glaucoma is a risk factor for increased IOP rather than glaucomatous optic nerve damage (POAG vs OH vs normal control). Korean J Ophthalmol. 1992 Dec;6(2):100–104. doi: 10.3341/kjo.1992.6.2.100. [DOI] [PubMed] [Google Scholar]
  24. Wiggs J. L., Allingham R. R., Hossain A., Kern J., Auguste J., DelBono E. A., Broomer B., Graham F. L., Hauser M., Pericak-Vance M. Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet. 2000 Apr 12;9(7):1109–1117. doi: 10.1093/hmg/9.7.1109. [DOI] [PubMed] [Google Scholar]
  25. Wiggs J. L., Lynch S., Ynagi G., Maselli M., Auguste J., Del Bono E. A., Olson L. M., Haines J. L. A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet. 2004 Apr 23;74(6):1314–1320. doi: 10.1086/421533. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Williams-Lyn D., Flanagan J., Buys Y., Trope G. E., Fingert J., Stone E. M., Héon E. The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area. Can J Ophthalmol. 2000 Feb;35(1):12–17. doi: 10.1016/s0008-4182(00)80103-9. [DOI] [PubMed] [Google Scholar]
  27. Wilson M. R., Hertzmark E., Walker A. M., Childs-Shaw K., Epstein D. L. A case-control study of risk factors in open angle glaucoma. Arch Ophthalmol. 1987 Aug;105(8):1066–1071. doi: 10.1001/archopht.1987.01060080068030. [DOI] [PubMed] [Google Scholar]
  28. Wilson M. Roy, Kosoko Omofolasade, Cowan Claude L., Jr, Sample Pamela A., Johnson Chris A., Haynatzki Gleb, Enger Cheryl, Crandall David. Progression of visual field loss in untreated glaucoma patients and glaucoma suspects in St. Lucia, West Indies. Am J Ophthalmol. 2002 Sep;134(3):399–405. doi: 10.1016/s0002-9394(02)01585-4. [DOI] [PubMed] [Google Scholar]
  29. Wirtz M. K., Samples J. R., Kramer P. L., Rust K., Topinka J. R., Yount J., Koler R. D., Acott T. S. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet. 1997 Feb;60(2):296–304. [PMC free article] [PubMed] [Google Scholar]
  30. Wirtz M. K., Samples J. R., Rust K., Lie J., Nordling L., Schilling K., Acott T. S., Kramer P. L. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol. 1999 Feb;117(2):237–241. doi: 10.1001/archopht.117.2.237. [DOI] [PubMed] [Google Scholar]

Articles from Journal of the National Medical Association are provided here courtesy of National Medical Association

RESOURCES