Skip to main content Accessibility help
×
Home

The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits

  • Maria Schache (a1) and Paul N. Baird (a1)

Abstract

The Australian Twin Registry (ATR) is a not-for-profit organization that coordinates research involving Australian twins and researchers. The ATR is one of the largest volunteer registries of its kind and contains over 33,000 twin pairs. The purpose of this review is to provide a broad overview of recent ophthalmic studies that have utilized the ATR for recruitment purposes. Such studies include the Australian Twin Eye Study (ATES) and the Genes in Myopia (GEM) study. The ATES and GEM studies have undertaken studies into the genetic influences on a number of ophthalmic traits through the use of heritability studies, linkage studies, genome-wide association studies, and candidate gene-based studies. An overview of these studies is provided in this review, as well as a description of the recruitment methodologies for both the ATES and GEM studies.

    • Send article to Kindle

      To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

      The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits
      Available formats
      ×

      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

      The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits
      Available formats
      ×

      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

      The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits
      Available formats
      ×

Copyright

Corresponding author

address for correspondence: Dr. Maria Schache, Centre For Eye Research Australia, University Of Melbourne, Royal Victorian Eye And Ear Hospital, Melbourne, VIC 3002, Australia. E-mail mschache@unimelb.edu.au

References

Hide All
Burdon, K. P., Macgregor, S., Hewitt, A. W., Sharma, S., Chidlow, G., Mills, R. A., . . . Craig, J. E. (2011). Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nature Genetics, 43, 574578.
Dirani, M., Chamberlain, M., Garoufalis, P., Chen, C., Guymer, R. H., & Baird, P. N. (2008a). Testing protocol and recruitment in the genes in myopia twin study. Ophthalmic Epidemiology, 15, 140147.
Dirani, M., Chamberlain, M., Shekar, S. N., Islam, A. F., Garoufalis, P., Chen, C. Y., . . . Baird, P. N. (2006a). Heritability of refractive error and ocular biometrics: The Genes in Myopia (GEM) Twin Study. Investigative Ophthalmology & Visual Science, 47, 47564761.
Dirani, M., Islam, A., Shekar, S. N., & Baird, P. N. (2008b). Dominant genetic effects on corneal astigmatism: The Genes in Myopia (GEM) Twin Study. Investigative Ophthalmology & Visual Science, 49, 13391344.
Dwyer, T., & Ponsonby, A. L. (1992). Sudden infant death syndrome: Insights from epidemiological research. Journal of Epidemiology and Community Health, 46, 98102.
Han, W., Yap, M. K. H., Wang, J., & Yip, S. P. (2006). Family-based association analysis of hepatocyte growth factor (HGF) gene polymorphisms in high myopia. Investigative Ophthalmology & Visual Science, 47, 22912299.
Hopper, J. L. (2002). The Australian Twin Registry. Twin Research, 5, 329336.
Hysi, P. G., Young, T. L., Mackey, D. A., Andrew, T., Fernandez-Medarde, A., Solouki, A. M., . . . Hammond, C. J. (2010). A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nature Genetics, 42, 902905.
Ikram, M. K., Sim, X., Jensen, R. A., Cotch, M. F., Hewitt, A. W., Ikram, M. A., . . . Wong, T. Y. (2010). Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. PLoS Genetics, 6, e1001184.
Larsson, M., Duffy, D. L., Zhu, G., Liu, J. Z., Macgregor, S., McRae, A. F., . . . Medland, S. E. (2011). GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. American Journal of Human Genetics, 89, 334343.
Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D., . . . Kayser, M. (2010). Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genetics, 6, e1000934.
Lu, Y., Dimasi, D. P., Hysi, P. G., Hewitt, A. W., Burdon, K. P., Toh, T., . . . Mackey, D. A. (2010). Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genetics, 6, e1000947.
Macgregor, S., Hewitt, A. W., Hysi, P. G., Ruddle, J. B., Medland, S. E., Henders, A. K., . . . Mackey, D. A. (2010). Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Human Molecular Genetics, 19, 27162724.
Mackey, D. A., Mackinnon, J. R., Brown, S. A., Kearns, L. S., Ruddle, J. B., Sanfilippo, P. G., . . . Hewitt, A. W. (2009). Twins eye study in Tasmania (TEST): Rationale and methodology to recruit and examine twins. Twin Research & Human Genetics, 12, 441454.
McGregor, B., Pfitzner, J., Zhu, G., Grace, M., Eldridge, A., Pearson, J., . . . Martin, N. G. (1999). Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins. Genetic Epidemiology, 16, 4053.
Pertile, K. K., Schache, M., Islam, F. M., Chen, C. Y., Dirani, M., Mitchell, P., & Baird, P. N. (2008). Assessment of TGIF as a candidate gene for myopia. Investigative Ophthalmology & Visual Science, 49, 4954.
Sanfilippo, P. G., Hammond, C. J., Staffieri, S. E., Kearns, L. S., Melissa Liew, S. H., Barbour, J. M., . . . Mackey, D. A. (2012). Heritability of strabismus: Genetic influence is specific to eso-deviation and independent of refractive error. Twin Research & Human Genetics, 13, 17.
Schache, M., Chen, C. Y., Dirani, M., & Baird, P. N. (2009). The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population. Molecular Vision, 15, 25992605.
Sun, C., Zhu, G., Wong, T. Y., Hewitt, A. W., Ruddle, J. B., Hodgson, L., . . . Mackey, D. A. (2009). Quantitative genetic analysis of the retinal vascular caliber: The Australian Twins Eye Study. Hypertension, 54, 788795.
Thorleifsson, G., Walters, G. B., Hewitt, A. W., Masson, G., Helgason, A., DeWan, A., . . . Stefansson, K. (2010). Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nature Genetics, 42, 906909.
Toh, T., Liew, S. H., MacKinnon, J. R., Hewitt, A. W., Poulsen, J. L., Spector, T. D., . . . Mackey, D. A. (2005). Central corneal thickness is highly heritable: The twin eye studies. Investigative Ophthalmology & Visual Science, 46, 37183722.
van Koolwijk, L. M., Ramdas, W. D., Ikram, M. K., Jansonius, N. M., Pasutto, F., Hysi, P. G., . . . van Duijn, C. M. (2012). Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genetics, 8, e1002611.
Veerappan, S., Pertile, K. K., Islam, A. F., Schache, M., Chen, C. Y., Mitchell, P., . . . Baird, P. N. (2009a). Role of the hepatocyte growth factor gene in refractive error. Ophthalmology, 117, 239245. e231–232.
Veerappan, S., Schache, M., Pertile, K. K., Islam, F. M., Chen, C. Y., . . . Baird, P. N. (2009b). The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures. Molecular Vision, 15, 13901397.
Verhoeven, V. J., Hysi, P. G., Saw, S. M., Vitart, V., Mirshahi, A., Guggenheim, J. A., . . . Klaver, C. C. (2012). Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Human Genetics, 131, 14671480.
Wang, P., Li, S., Xiao, X., Jia, X., Jiao, X., Guo, X., & Zhang, Q. (2009). High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes. Investigative Ophthalmology & Visual Science, 50, 15461551.
Wharton, C., Dharmage, S., Jenkins, M., Dite, G., Hopper, J., Giles, G., . . . Walters, E. H. (2006). Tracing 8,600 participants 36 years after recruitment at age seven for the Tasmanian Asthma Study. Australian and New Zealand Journal of Public Health, 30, 105110.
Yanovitch, T., Li, Y. J., Metlapally, R., Abbott, D., Viet, K. N., & Young, T. L. (2009). Hepatocyte growth factor and myopia: Genetic association analyses in a Caucasian population. Molecular Vision, 15, 10281035.
Zhu, G., Hewitt, A. W., Ruddle, J. B., Kearns, L. S., Brown, S. A., Mackinnon, J. R., . . . Mackey, D. A. (2008). Genetic dissection of myopia: Evidence for linkage of ocular axial length to chromosome 5q. Ophthalmology, 115, 10531057. e1052.

Keywords

Related content

Powered by UNSILO

The Australian Twin Registry as a Resource For Genetic Studies into Ophthalmic Traits

  • Maria Schache (a1) and Paul N. Baird (a1)

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed.