Literature DB >> 23647423

Genetic susceptibility and mechanisms for refractive error.

D Stambolian1.   

Abstract

Refractive errors, myopia and hyperopia, are the most common causes of visual impairment worldwide. Recent advances in genetics have been utilized to identify a wealth of genetic loci believed to contain susceptibility genes for refractive error (RE). The current genetic evidence confirms that RE is influenced by both common and rare variants with a significant environmental component. These studies argue that only by combining genetic and environmental knowledge with in vivo measurements of biological states will it be possible to understand the underlying biology of RE that will lead to novel therapeutic targets and accurate genetic predictions.
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  animal models; gene-environment interaction; genetic variation; hyperopia; myopia; refractive error

Mesh:

Year:  2013        PMID: 23647423      PMCID: PMC4136757          DOI: 10.1111/cge.12180

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  57 in total

1.  Are rare variants responsible for susceptibility to complex diseases?

Authors:  J K Pritchard
Journal:  Am J Hum Genet       Date:  2001-06-12       Impact factor: 11.025

2.  Initial sequencing and comparative analysis of the mouse genome.

Authors:  Robert H Waterston; Kerstin Lindblad-Toh; Ewan Birney; Jane Rogers; Josep F Abril; Pankaj Agarwal; Richa Agarwala; Rachel Ainscough; Marina Alexandersson; Peter An; Stylianos E Antonarakis; John Attwood; Robert Baertsch; Jonathon Bailey; Karen Barlow; Stephan Beck; Eric Berry; Bruce Birren; Toby Bloom; Peer Bork; Marc Botcherby; Nicolas Bray; Michael R Brent; Daniel G Brown; Stephen D Brown; Carol Bult; John Burton; Jonathan Butler; Robert D Campbell; Piero Carninci; Simon Cawley; Francesca Chiaromonte; Asif T Chinwalla; Deanna M Church; Michele Clamp; Christopher Clee; Francis S Collins; Lisa L Cook; Richard R Copley; Alan Coulson; Olivier Couronne; James Cuff; Val Curwen; Tim Cutts; Mark Daly; Robert David; Joy Davies; Kimberly D Delehaunty; Justin Deri; Emmanouil T Dermitzakis; Colin Dewey; Nicholas J Dickens; Mark Diekhans; Sheila Dodge; Inna Dubchak; Diane M Dunn; Sean R Eddy; Laura Elnitski; Richard D Emes; Pallavi Eswara; Eduardo Eyras; Adam Felsenfeld; Ginger A Fewell; Paul Flicek; Karen Foley; Wayne N Frankel; Lucinda A Fulton; Robert S Fulton; Terrence S Furey; Diane Gage; Richard A Gibbs; Gustavo Glusman; Sante Gnerre; Nick Goldman; Leo Goodstadt; Darren Grafham; Tina A Graves; Eric D Green; Simon Gregory; Roderic Guigó; Mark Guyer; Ross C Hardison; David Haussler; Yoshihide Hayashizaki; LaDeana W Hillier; Angela Hinrichs; Wratko Hlavina; Timothy Holzer; Fan Hsu; Axin Hua; Tim Hubbard; Adrienne Hunt; Ian Jackson; David B Jaffe; L Steven Johnson; Matthew Jones; Thomas A Jones; Ann Joy; Michael Kamal; Elinor K Karlsson; Donna Karolchik; Arkadiusz Kasprzyk; Jun Kawai; Evan Keibler; Cristyn Kells; W James Kent; Andrew Kirby; Diana L Kolbe; Ian Korf; Raju S Kucherlapati; Edward J Kulbokas; David Kulp; Tom Landers; J P Leger; Steven Leonard; Ivica Letunic; Rosie Levine; Jia Li; Ming Li; Christine Lloyd; Susan Lucas; Bin Ma; Donna R Maglott; Elaine R Mardis; Lucy Matthews; Evan Mauceli; John H Mayer; Megan McCarthy; W Richard McCombie; Stuart McLaren; Kirsten McLay; John D McPherson; Jim Meldrim; Beverley Meredith; Jill P Mesirov; Webb Miller; Tracie L Miner; Emmanuel Mongin; Kate T Montgomery; Michael Morgan; Richard Mott; James C Mullikin; Donna M Muzny; William E Nash; Joanne O Nelson; Michael N Nhan; Robert Nicol; Zemin Ning; Chad Nusbaum; Michael J O'Connor; Yasushi Okazaki; Karen Oliver; Emma Overton-Larty; Lior Pachter; Genís Parra; Kymberlie H Pepin; Jane Peterson; Pavel Pevzner; Robert Plumb; Craig S Pohl; Alex Poliakov; Tracy C Ponce; Chris P Ponting; Simon Potter; Michael Quail; Alexandre Reymond; Bruce A Roe; Krishna M Roskin; Edward M Rubin; Alistair G Rust; Ralph Santos; Victor Sapojnikov; Brian Schultz; Jörg Schultz; Matthias S Schwartz; Scott Schwartz; Carol Scott; Steven Seaman; Steve Searle; Ted Sharpe; Andrew Sheridan; Ratna Shownkeen; Sarah Sims; Jonathan B Singer; Guy Slater; Arian Smit; Douglas R Smith; Brian Spencer; Arne Stabenau; Nicole Stange-Thomann; Charles Sugnet; Mikita Suyama; Glenn Tesler; Johanna Thompson; David Torrents; Evanne Trevaskis; John Tromp; Catherine Ucla; Abel Ureta-Vidal; Jade P Vinson; Andrew C Von Niederhausern; Claire M Wade; Melanie Wall; Ryan J Weber; Robert B Weiss; Michael C Wendl; Anthony P West; Kris Wetterstrand; Raymond Wheeler; Simon Whelan; Jamey Wierzbowski; David Willey; Sophie Williams; Richard K Wilson; Eitan Winter; Kim C Worley; Dudley Wyman; Shan Yang; Shiaw-Pyng Yang; Evgeny M Zdobnov; Michael C Zody; Eric S Lander
Journal:  Nature       Date:  2002-12-05       Impact factor: 49.962

Review 3.  VISION 2020: The Right to Sight: a global initiative to eliminate avoidable blindness.

Authors:  Louis Pizzarello; Adenike Abiose; Timothy Ffytche; Rainaldo Duerksen; R Thulasiraj; Hugh Taylor; Hannah Faal; Gullapali Rao; Ivo Kocur; Serge Resnikoff
Journal:  Arch Ophthalmol       Date:  2004-04

4.  The prevalence of refractive errors among adults in the United States, Western Europe, and Australia.

Authors:  John H Kempen; Paul Mitchell; Kristine E Lee; James M Tielsch; Aimee T Broman; Hugh R Taylor; M Kamran Ikram; Nathan G Congdon; Benita J O'Colmain
Journal:  Arch Ophthalmol       Date:  2004-04

5.  Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis.

Authors:  T L Young; L D Atwood; S M Ronan; A T Dewan; A B Alvear; J Peterson; A Holleschau; R A King
Journal:  Ophthalmic Genet       Date:  2001-06       Impact factor: 1.803

6.  The predictive capacity of personal genome sequencing.

Authors:  Nicholas J Roberts; Joshua T Vogelstein; Giovanni Parmigiani; Kenneth W Kinzler; Bert Vogelstein; Victor E Velculescu
Journal:  Sci Transl Med       Date:  2012-04-02       Impact factor: 17.956

7.  Myopia and eye enlargement after neonatal lid fusion in monkeys.

Authors:  T N Wiesel; E Raviola
Journal:  Nature       Date:  1977-03-03       Impact factor: 49.962

8.  Prevalence and progression of myopic retinopathy in an older population.

Authors:  Jerry Vongphanit; Paul Mitchell; Jie Jin Wang
Journal:  Ophthalmology       Date:  2002-04       Impact factor: 12.079

9.  Hsp90 as a capacitor of phenotypic variation.

Authors:  Christine Queitsch; Todd A Sangster; Susan Lindquist
Journal:  Nature       Date:  2002-05-12       Impact factor: 49.962

10.  Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.

Authors:  Khanh-Nhat Tran-Viet; Elizabeth St Germain; Vincent Soler; Caldwell Powell; Sing-Hui Lim; Thomas Klemm; Seang Mei Saw; Terri L Young
Journal:  Mol Vis       Date:  2012-04-12       Impact factor: 2.367

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  18 in total

1.  Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.

Authors:  Anthony M Musolf; Claire L Simpson; Theresa A Alexander; Laura Portas; Federico Murgia; Elise B Ciner; Dwight Stambolian; Joan E Bailey-Wilson
Journal:  Hum Genet       Date:  2019-03-02       Impact factor: 4.132

2.  Growth curves of myopia-related parameters to clinically monitor the refractive development in Chinese schoolchildren.

Authors:  Pablo Sanz Diez; Li-Hua Yang; Mei-Xia Lu; Siegfried Wahl; Arne Ohlendorf
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2019-03-23       Impact factor: 3.117

3.  Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.

Authors:  Lin Zhou; Tuo Li; Yi-Qiao Xing; Yin Li; Qing-Song Wu; Mao-Ju Zhang
Journal:  Int J Ophthalmol       Date:  2016-10-18       Impact factor: 1.779

4.  Childhood myopia: epidemiology, risk factors, and prevention.

Authors:  Matthew Recko; Erin Durrie Stahl
Journal:  Mo Med       Date:  2015 Mar-Apr

5.  The association of TGFB1 genetic polymorphisms with high myopia: a systematic review and meta-analysis.

Authors:  Bo Meng; Shi-Ming Li; Yu Yang; Zhi-Rong Yang; Feng Sun; Meng-Tian Kang; Yun-Yun Sun; An-Ran Ran; Jia-Nan Wang; Ran Yan; Ya-Wen BaI; Ning-Li Wang; Si-Yan Zhan
Journal:  Int J Clin Exp Med       Date:  2015-11-15

Review 6.  IMI - Myopia Genetics Report.

Authors:  Milly S Tedja; Annechien E G Haarman; Magda A Meester-Smoor; Jaakko Kaprio; David A Mackey; Jeremy A Guggenheim; Christopher J Hammond; Virginie J M Verhoeven; Caroline C W Klaver
Journal:  Invest Ophthalmol Vis Sci       Date:  2019-02-28       Impact factor: 4.799

7.  Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

Authors:  Claire L Simpson; Robert Wojciechowski; Konrad Oexle; Federico Murgia; Laura Portas; Xiaohui Li; Virginie J M Verhoeven; Veronique Vitart; Maria Schache; S Mohsen Hosseini; Pirro G Hysi; Leslie J Raffel; Mary Frances Cotch; Emily Chew; Barbara E K Klein; Ronald Klein; Tien Yin Wong; Cornelia M van Duijn; Paul Mitchell; Seang Mei Saw; Maurizio Fossarello; Jie Jin Wang; Ozren Polašek; Harry Campbell; Igor Rudan; Ben A Oostra; André G Uitterlinden; Albert Hofman; Fernando Rivadeneira; Najaf Amin; Lennart C Karssen; Johannes R Vingerling; Angela Döring; Thomas Bettecken; Goran Bencic; Christian Gieger; H-Erich Wichmann; James F Wilson; Cristina Venturini; Brian Fleck; Phillippa M Cumberland; Jugnoo S Rahi; Chris J Hammond; Caroline Hayward; Alan F Wright; Andrew D Paterson; Paul N Baird; Caroline C W Klaver; Jerome I Rotter; Mario Pirastu; Thomas Meitinger; Joan E Bailey-Wilson; Dwight Stambolian
Journal:  PLoS One       Date:  2014-09-18       Impact factor: 3.240

8.  Behavior disorders in children with significant refractive errors.

Authors:  Gholamhoseyn Aghai; Parvin Dibajnia; Esmat Ashkesh; Mohammadreza Nazari; Khalil Ghasemi Falavarjani
Journal:  J Curr Ophthalmol       Date:  2016-08-17

9.  Variation in PTCHD2, CRISP3, NAP1L4, FSCB, and AP3B2 associated with spherical equivalent.

Authors:  Fei Chen; Priya Duggal; Barbara E K Klein; Kristine E Lee; Barbara Truitt; Ronald Klein; Sudha K Iyengar; Alison P Klein
Journal:  Mol Vis       Date:  2016-07-14       Impact factor: 2.367

10.  Low serum vitamin D is associated with axial length and risk of myopia in young children.

Authors:  J Willem L Tideman; Jan Roelof Polling; Trudy Voortman; Vincent W V Jaddoe; André G Uitterlinden; Albert Hofman; Johannes R Vingerling; Oscar H Franco; Caroline C W Klaver
Journal:  Eur J Epidemiol       Date:  2016-03-08       Impact factor: 8.082

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