Twin Research and Human Genetics

Articles

Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins

David A. Mackeya1 c1, Jane R. MacKinnona2, Shayne A. Browna3, Lisa S. Kearnsa4, Jonathan B. Ruddlea5, Paul G. Sanfilippoa6, Cong Suna7, Christopher J. Hammonda8, Terri L. Younga9, Nicholas G. Martina10 and Alex W. Hewitta11

a1 Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Australia; Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Australia; Department of Ophthalmology, Royal Hobart Hospital, University of Tasmania, Australia. D.Mackey@utas.edu.au

a2 Department of Ophthalmology, Royal Hobart Hospital, University of Tasmania, Australia.

a3 Department of Ophthalmology, Royal Hobart Hospital, University of Tasmania, Australia.

a4 Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Australia.

a5 Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Australia.

a6 Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Australia.

a7 Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Australia.

a8 Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, London, United Kingdom.

a9 Duke Center for Human Genetics, Durham, North Carolina, United States of America.

a10 Genetics and Population Health, Queensland Institute for Medical Research, Australia.

a11 Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Australia.

Abstract

Visual impairment is a leading cause of morbidity and poor quality of life in our community. Unravelling the mechanisms underpinning important blinding diseases could allow preventative or curative steps to be implemented. Twin siblings provide a unique opportunity in biology to discover genes associated with numerous eye diseases and ocular biometry. Twins are particularly useful for quantitative trait analysis through genome-wide association and linkage studies. Although many studies involving twins rely on twin registries, we present our approach to the Twins Eye Study in Tasmania to provide insight into possible recruitment strategies, expected participation rates and potential examination strategies that can be considered by other researchers for similar studies. Five separate avenues for cohort recruitment were adopted: (1) piggy-backing existing studies where twins had been recruited, (2) utilizing the national twin registry, (3) word-of-mouth and local media publicity, (4) directly approaching schools, and finally (5) collaborating with other research groups studying twins.

(Received August 07 2009)

(Accepted August 19 2009)

Keywords

  • ophthalmology;
  • glaucoma;
  • myopia;
  • genetics;
  • genome-wide association

Correspondence:

c1 Address for correspondence: Professor DA Mackey, Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, 32 Gisborne Street, East Melbourne, Victoria, Australia 3002.

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