Literature DB >> 24876304

Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.

Pirro G Hysi1, Robert Wojciechowski2, Jugnoo S Rahi3, Chris J Hammond4.   

Abstract

The investigation of the genetic basis of refractive error and myopia entered a new stage with the introduction of genome-wide association studies (GWAS). Multiple GWAS on many ethnic groups have been published over the years, providing new insight into the genetic architecture and pathophysiology of refractive error. This is a review of the GWAS published to date, the main lessons learned, and future possible directions of genetic studies of myopia and refractive error. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

Entities:  

Keywords:  GWAS; genetic architecture; refractive error

Mesh:

Year:  2014        PMID: 24876304      PMCID: PMC4039381          DOI: 10.1167/iovs.14-14149

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  39 in total

1.  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

2.  Estimating heritability and shared environmental effects for refractive error in twin and family studies.

Authors:  Margarida C Lopes; Toby Andrew; Francis Carbonaro; Tim D Spector; Christopher J Hammond
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-08-29       Impact factor: 4.799

Review 3.  Nature and nurture: the complex genetics of myopia and refractive error.

Authors:  R Wojciechowski
Journal:  Clin Genet       Date:  2010-12-13       Impact factor: 4.438

4.  IQ and the association with myopia in children.

Authors:  Seang-Mei Saw; Say-Beng Tan; Daniel Fung; Kee-Seng Chia; David Koh; Donald T H Tan; Richard A Stone
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-09       Impact factor: 4.799

5.  Reactome: a database of reactions, pathways and biological processes.

Authors:  David Croft; Gavin O'Kelly; Guanming Wu; Robin Haw; Marc Gillespie; Lisa Matthews; Michael Caudy; Phani Garapati; Gopal Gopinath; Bijay Jassal; Steven Jupe; Irina Kalatskaya; Shahana Mahajan; Bruce May; Nelson Ndegwa; Esther Schmidt; Veronica Shamovsky; Christina Yung; Ewan Birney; Henning Hermjakob; Peter D'Eustachio; Lincoln Stein
Journal:  Nucleic Acids Res       Date:  2010-11-09       Impact factor: 16.971

6.  Prevalence of myopia in Taiwanese schoolchildren: 1983 to 2000.

Authors:  L L K Lin; Y F Shih; C K Hsiao; C J Chen
Journal:  Ann Acad Med Singapore       Date:  2004-01       Impact factor: 2.473

7.  A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

Authors:  Weihua Meng; Jacqueline Butterworth; Declan T Bradley; Anne E Hughes; Vincent Soler; Patrick Calvas; Francois Malecaze
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-12-05       Impact factor: 4.799

8.  Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Authors:  Virginie J M Verhoeven; Pirro G Hysi; Seang-Mei Saw; Veronique Vitart; Alireza Mirshahi; Jeremy A Guggenheim; Mary Frances Cotch; Kenji Yamashiro; Paul N Baird; David A Mackey; Robert Wojciechowski; M Kamran Ikram; Alex W Hewitt; Priya Duggal; Sarayut Janmahasatian; Chiea-Chuen Khor; Qiao Fan; Xin Zhou; Terri L Young; E-Shyong Tai; Liang-Kee Goh; Yi-Ju Li; Tin Aung; Eranga Vithana; Yik-Ying Teo; Wanting Tay; Xueling Sim; Igor Rudan; Caroline Hayward; Alan F Wright; Ozren Polasek; Harry Campbell; James F Wilson; Brian W Fleck; Isao Nakata; Nagahisa Yoshimura; Ryo Yamada; Fumihiko Matsuda; Kyoko Ohno-Matsui; Abhishek Nag; George McMahon; Beate St Pourcain; Yi Lu; Jugnoo S Rahi; Phillippa M Cumberland; Shomi Bhattacharya; Claire L Simpson; Larry D Atwood; Xiaohui Li; Leslie J Raffel; Federico Murgia; Laura Portas; Dominiek D G Despriet; Leonieke M E van Koolwijk; Christian Wolfram; Karl J Lackner; Anke Tönjes; Reedik Mägi; Terho Lehtimäki; Mika Kähönen; Tõnu Esko; Andres Metspalu; Taina Rantanen; Olavi Pärssinen; Barbara E Klein; Thomas Meitinger; Timothy D Spector; Ben A Oostra; Albert V Smith; Paulus T V M de Jong; Albert Hofman; Najaf Amin; Lennart C Karssen; Fernando Rivadeneira; Johannes R Vingerling; Guðný Eiríksdóttir; Vilmundur Gudnason; Angela Döring; Thomas Bettecken; André G Uitterlinden; Cathy Williams; Tanja Zeller; Raphaële Castagné; Konrad Oexle; Cornelia M van Duijn; Sudha K Iyengar; Paul Mitchell; Jie Jin Wang; René Höhn; Norbert Pfeiffer; Joan E Bailey-Wilson; Dwight Stambolian; Tien-Yin Wong; Christopher J Hammond; Caroline C W Klaver
Journal:  Hum Genet       Date:  2012-06-05       Impact factor: 4.132

9.  Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts.

Authors:  Pirro G Hysi; Omar A Mahroo; Phillippa Cumberland; Robert Wojciechowski; Katie M Williams; Terri L Young; David A Mackey; Jugnoo S Rahi; Christopher J Hammond
Journal:  JAMA Ophthalmol       Date:  2014-01       Impact factor: 7.389

10.  Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Authors:  Virginie J M Verhoeven; Pirro G Hysi; Robert Wojciechowski; Qiao Fan; Jeremy A Guggenheim; René Höhn; Stuart MacGregor; Alex W Hewitt; Abhishek Nag; Ching-Yu Cheng; Ekaterina Yonova-Doing; Xin Zhou; M Kamran Ikram; Gabriëlle H S Buitendijk; George McMahon; John P Kemp; Beate St Pourcain; Claire L Simpson; Kari-Matti Mäkelä; Terho Lehtimäki; Mika Kähönen; Andrew D Paterson; S Mohsen Hosseini; Hoi Suen Wong; Liang Xu; Jost B Jonas; Olavi Pärssinen; Juho Wedenoja; Shea Ping Yip; Daniel W H Ho; Chi Pui Pang; Li Jia Chen; Kathryn P Burdon; Jamie E Craig; Barbara E K Klein; Ronald Klein; Toomas Haller; Andres Metspalu; Chiea-Chuen Khor; E-Shyong Tai; Tin Aung; Eranga Vithana; Wan-Ting Tay; Veluchamy A Barathi; Peng Chen; Ruoying Li; Jiemin Liao; Yingfeng Zheng; Rick T Ong; Angela Döring; David M Evans; Nicholas J Timpson; Annemieke J M H Verkerk; Thomas Meitinger; Olli Raitakari; Felicia Hawthorne; Tim D Spector; Lennart C Karssen; Mario Pirastu; Federico Murgia; Wei Ang; Aniket Mishra; Grant W Montgomery; Craig E Pennell; Phillippa M Cumberland; Ioana Cotlarciuc; Paul Mitchell; Jie Jin Wang; Maria Schache; Sarayut Janmahasatian; Sarayut Janmahasathian; Robert P Igo; Jonathan H Lass; Emily Chew; Sudha K Iyengar; Theo G M F Gorgels; Igor Rudan; Caroline Hayward; Alan F Wright; Ozren Polasek; Zoran Vatavuk; James F Wilson; Brian Fleck; Tanja Zeller; Alireza Mirshahi; Christian Müller; André G Uitterlinden; Fernando Rivadeneira; Johannes R Vingerling; Albert Hofman; Ben A Oostra; Najaf Amin; Arthur A B Bergen; Yik-Ying Teo; Jugnoo S Rahi; Veronique Vitart; Cathy Williams; Paul N Baird; Tien-Yin Wong; Konrad Oexle; Norbert Pfeiffer; David A Mackey; Terri L Young; Cornelia M van Duijn; Seang-Mei Saw; Joan E Bailey-Wilson; Dwight Stambolian; Caroline C Klaver; Christopher J Hammond
Journal:  Nat Genet       Date:  2013-02-10       Impact factor: 38.330

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  24 in total

Review 1.  INVOLVEMENT OF MULTIPLE MOLECULAR PATHWAYS IN THE GENETICS OF OCULAR REFRACTION AND MYOPIA.

Authors:  Robert Wojciechowski; Ching-Yu Cheng
Journal:  Retina       Date:  2018-01       Impact factor: 4.256

2.  Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations.

Authors:  Fang-yu Lin; Zhu Huang; Ning Lu; Wei Chen; Hui Fang; Wei Han
Journal:  J Zhejiang Univ Sci B       Date:  2016-03       Impact factor: 3.066

3.  Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population.

Authors:  Candelaria Vergara; Samantha M Bomotti; Cristian Valencia; Barbara E K Klein; Kristine E Lee; Ronald Klein; Alison P Klein; Priya Duggal
Journal:  Hum Mutat       Date:  2018-09-11       Impact factor: 4.878

Review 4.  Non-invasive objective and contemporary methods for measuring ocular surface inflammation in soft contact lens wearers - A review.

Authors:  Cecilia Chao; Kathryn Richdale; Isabelle Jalbert; Kim Doung; Moneisha Gokhale
Journal:  Cont Lens Anterior Eye       Date:  2017-06-09       Impact factor: 3.077

5.  Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia.

Authors:  Maureen Neitz; Melissa Wagner-Schuman; Jessica S Rowlan; James A Kuchenbecker; Jay Neitz
Journal:  Genes (Basel)       Date:  2022-05-25       Impact factor: 4.141

6.  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 7.  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

8.  Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Authors:  Hui Guo; Ping Tong; Yanling Liu; Lu Xia; Tianyun Wang; Qi Tian; Ying Li; Yiqiao Hu; Yu Zheng; Xuemin Jin; Yunping Li; Wei Xiong; Beisha Tang; Yong Feng; Jiada Li; Qian Pan; Zhengmao Hu; Kun Xia
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  Role of Educational Exposure in the Association Between Myopia and Birth Order.

Authors:  Jeremy A Guggenheim; Cathy Williams
Journal:  JAMA Ophthalmol       Date:  2015-12       Impact factor: 7.389

10.  Study of association of PAX6 polymorphisms with susceptibility to high myopia in a Japanese population.

Authors:  Nobuyuki Kanemaki; Akira Meguro; Takahiro Yamane; Masaki Takeuchi; Eiichi Okada; Yasuhito Iijima; Nobuhisa Mizuki
Journal:  Clin Ophthalmol       Date:  2015-10-27
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