Literature DB >> 19803772

Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins.

David A Mackey1, Jane R Mackinnon, Shayne A Brown, Lisa S Kearns, Jonathan B Ruddle, Paul G Sanfilippo, Cong Sun, Christopher J Hammond, Terri L Young, Nicholas G Martin, Alex W Hewitt.   

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.

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Year:  2009        PMID: 19803772      PMCID: PMC3855231          DOI: 10.1375/twin.12.5.441

Source DB:  PubMed          Journal:  Twin Res Hum Genet        ISSN: 1832-4274            Impact factor:   1.587


  51 in total

1.  Within pair association between birth weight and blood pressure at age 8 in twins from a cohort study.

Authors:  T Dwyer; L Blizzard; R Morley; A L Ponsonby
Journal:  BMJ       Date:  1999-11-20

2.  Linkage and association analysis of radiation damage repair genes XRCC3 and XRCC5 with nevus density in adolescent twins.

Authors:  Gu Zhu; David L Duffy; David R Turner; Kelly R Ewen; Grant W Montgomery; Nicholas G Martin
Journal:  Twin Res       Date:  2003-08

3.  A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

Authors:  Gu Zhu; David M Evans; David L Duffy; Grant W Montgomery; Sarah E Medland; Nathan A Gillespie; Kelly R Ewen; Mary Jewell; Yew Wah Liew; Nicholas K Hayward; Richard A Sturm; Jeffrey M Trent; Nicholas G Martin
Journal:  Twin Res       Date:  2004-04

Review 4.  Ocular genetics: current understanding.

Authors:  Ian M MacDonald; Mai Tran; Maria A Musarella
Journal:  Surv Ophthalmol       Date:  2004 Mar-Apr       Impact factor: 6.048

5.  Heritable features of the optic disc: a novel twin method for determining genetic significance.

Authors:  Alex W Hewitt; Johan P Poulsen; Wallace L M Alward; Sonya L Bennett; Wido M Budde; Richard L Cooper; Jamie E Craig; John H Fingert; Paul J Foster; David F Garway-Heath; Catherine M Green; Christopher J Hammond; Sohan S Hayreh; Jost B Jonas; Paul L Kaufman; Neil R Miller; William H Morgan; Nancy J Newman; Harry A Quigley; John R Samples; George L Spaeth; Konrad Pesudovs; David A Mackey
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-06       Impact factor: 4.799

6.  Twin study on ocular pressure after topical dexamethasone. 1. Frequency distribution of pressure response.

Authors:  J T Schwartz; F H Reuling; M Feinleib; R J Garrison; D J Collie
Journal:  Am J Ophthalmol       Date:  1973-07       Impact factor: 5.258

7.  Twin heritability study of the effect of corticosteroids on intraocular pressure.

Authors:  J T Schwartz; F H Reuling; M Feinleib; R J Garrison; D J Collie
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

8.  Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

Authors:  Andrea L Vincent; Gail Billingsley; Yvonne Buys; Alex V Levin; Megan Priston; Graham Trope; Donna Williams-Lyn; Elise Héon
Journal:  Am J Hum Genet       Date:  2002-01-03       Impact factor: 11.025

Review 9.  Versican: a versatile extracellular matrix proteoglycan in cell biology.

Authors:  Thomas N Wight
Journal:  Curr Opin Cell Biol       Date:  2002-10       Impact factor: 8.382

10.  A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.

Authors:  Christopher J Hammond; Toby Andrew; Ying Tat Mak; Tim D Spector
Journal:  Am J Hum Genet       Date:  2004-06-24       Impact factor: 11.025

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  20 in total

1.  Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape.

Authors:  Li Tang; Todd E Scheetz; David A Mackey; Alex W Hewitt; John H Fingert; Young H Kwon; Gwenole Quellec; Joseph M Reinhardt; Michael D Abràmoff
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-05-26       Impact factor: 4.799

2.  GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.

Authors:  Mats Larsson; David L Duffy; Gu Zhu; Jimmy Z Liu; Stuart Macgregor; Allan F McRae; Margaret J Wright; Richard A Sturm; David A Mackey; Grant W Montgomery; Nicholas G Martin; Sarah E Medland
Journal:  Am J Hum Genet       Date:  2011-08-12       Impact factor: 11.025

3.  Ophthalmic phenotypes and the representativeness of twin data for the general population.

Authors:  Paul G Sanfilippo; Sarah E Medland; Alex W Hewitt; Lisa S Kearns; Jonathan B Ruddle; Cong Sun; Christopher J Hammond; Terri L Young; Nicholas G Martin; David A Mackey
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-07-29       Impact factor: 4.799

4.  Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Authors:  Aniket Mishra; Seyhan Yazar; Alex W Hewitt; Jenny A Mountain; Wei Ang; Craig E Pennell; Nicholas G Martin; Grant W Montgomery; Christopher J Hammond; Terri L Young; Stuart Macgregor; David A Mackey
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-10-11       Impact factor: 4.799

5.  Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Authors:  Gudmar Thorleifsson; G Bragi Walters; Alex W Hewitt; Gisli Masson; Agnar Helgason; Andrew DeWan; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Sigurjon A Gudjonsson; Kristinn P Magnusson; Hreinn Stefansson; Dennis S C Lam; Pancy O S Tam; Gudrun J Gudmundsdottir; Laura Southgate; Kathryn P Burdon; Maria Soffia Gottfredsdottir; Micheala A Aldred; Paul Mitchell; David St Clair; David A Collier; Nelson Tang; Orn Sveinsson; Stuart Macgregor; Nicholas G Martin; Angela J Cree; Jane Gibson; Alex Macleod; Aby Jacob; Sarah Ennis; Terri L Young; Juliana C N Chan; Wojciech S S Karwatowski; Christopher J Hammond; Kristjan Thordarson; Mingzhi Zhang; Claes Wadelius; Andrew J Lotery; Richard C Trembath; Chi Pui Pang; Josephine Hoh; Jamie E Craig; Augustine Kong; David A Mackey; Fridbert Jonasson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nat Genet       Date:  2010-09-12       Impact factor: 38.330

6.  Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study.

Authors:  Gabriel Cuellar-Partida; Katie M Williams; Seyhan Yazar; Jeremy A Guggenheim; Alex W Hewitt; Cathy Williams; Jie Jin Wang; Pik-Fang Kho; Seang Mei Saw; Ching-Yu Cheng; Tien Yin Wong; Tin Aung; Terri L Young; J Willem L Tideman; Jost B Jonas; Paul Mitchell; Robert Wojciechowski; Dwight Stambolian; Pirro Hysi; Christopher J Hammond; David A Mackey; Robyn M Lucas; Stuart MacGregor
Journal:  Int J Epidemiol       Date:  2017-12-01       Impact factor: 7.196

7.  Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults.

Authors:  Madeline H Meier; Nathan A Gillespie; Narelle K Hansell; Alex W Hewitt; Ian B Hickie; Yi Lu; Stuart MacGregor; Sarah E Medland; Cong Sun; Tien Y Wong; Margaret J Wright; Gu Zhu; Nicholas G Martin; David A Mackey
Journal:  Psychosom Med       Date:  2014 Nov-Dec       Impact factor: 4.312

8.  Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

Authors:  Yi Lu; David P Dimasi; Pirro G Hysi; Alex W Hewitt; Kathryn P Burdon; Tze'Yo Toh; Jonathan B Ruddle; Yi Ju Li; Paul Mitchell; Paul R Healey; Grant W Montgomery; Narelle Hansell; Timothy D Spector; Nicholas G Martin; Terri L Young; Christopher J Hammond; Stuart Macgregor; Jamie E Craig; David A Mackey
Journal:  PLoS Genet       Date:  2010-05-13       Impact factor: 5.917

9.  Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Authors:  Stuart Macgregor; Alex W Hewitt; Pirro G Hysi; Jonathan B Ruddle; Sarah E Medland; Anjali K Henders; Scott D Gordon; Toby Andrew; Brian McEvoy; Paul G Sanfilippo; Francis Carbonaro; Vikas Tah; Yi Ju Li; Sonya L Bennett; Jamie E Craig; Grant W Montgomery; Khanh-Nhat Tran-Viet; Nadean L Brown; Timothy D Spector; Nicholas G Martin; Terri L Young; Christopher J Hammond; David A Mackey
Journal:  Hum Mol Genet       Date:  2010-04-15       Impact factor: 6.150

10.  Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.

Authors:  Abhishek Nag; Cristina Venturini; Pirro G Hysi; Matthew Arno; Estibaliz Aldecoa-Otalora Astarloa; Stuart Macgregor; Alex W Hewitt; Terri L Young; Paul Mitchell; Ananth C Viswanathan; David A Mackey; Christopher J Hammond
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-05-01       Impact factor: 4.799

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