Literature DB >> 17065484

Heritability of refractive error and ocular biometrics: the Genes in Myopia (GEM) twin study.

Mohamed Dirani1, Matthew Chamberlain, Sri N Shekar, Amirul F M Islam, Pam Garoufalis, Christine Y Chen, Robyn H Guymer, Paul N Baird.   

Abstract

PURPOSE: A classic twin study was undertaken to assess the contribution of genes and environment to the development of refractive errors and ocular biometrics in a twin population.
METHODS: A total of 1224 twins (345 monozygotic [MZ] and 267 dizygotic [DZ] twin pairs) aged between 18 and 88 years were examined. All twins completed a questionnaire consisting of a medical history, education, and zygosity. Objective refraction was measured in all twins, and biometric measurements were obtained using partial coherence interferometry.
RESULTS: Intrapair correlations for spherical equivalent and ocular biometrics were significantly higher in the MZ than in the DZ twin pairs (P < 0.05), when refraction was considered as a continuous variable. A significant gender difference in the variation of spherical equivalent and ocular biometrics was found (P < 0.05). A genetic model specifying an additive, dominant, and unique environmental factor that was sex limited was the best fit for all measured variables. Heritability of spherical equivalents of 88% and 75% were found in the men and women, respectively, whereas, that of axial length was 94% and 92%, respectively. Additive genetic effects accounted for a greater proportion of the variance in spherical equivalent, whereas the variance in ocular biometrics, particularly axial length was explained mostly by dominant genetic effects.
CONCLUSIONS: Genetic factors, both additive and dominant, play a significant role in refractive error (myopia and hypermetropia) as well as in ocular biometrics, particularly axial length. The sex limitation ADE model (additive genetic, nonadditive genetic, and environmental components) provided the best-fit genetic model for all parameters.

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Year:  2006        PMID: 17065484     DOI: 10.1167/iovs.06-0270

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


  67 in total

1.  Correlation between polymorphisms in the MFN1 gene and myopia in Chinese population.

Authors:  Yun-Chun Zou; Jia-Hong Lei; Ying Wang; Shuang Xu
Journal:  Int J Ophthalmol       Date:  2015-12-18       Impact factor: 1.779

Review 2.  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

3.  Heritability and shared environment estimates for myopia and associated ocular biometric traits: the Genes in Myopia (GEM) family study.

Authors:  Christine Yi-Chin Chen; Katrina Jacqueline Scurrah; Jim Stankovich; Pam Garoufalis; Mohamed Dirani; Kelly Kathleen Pertile; Andrea Jane Richardson; Paul Mitchell; Paul Nigel Baird
Journal:  Hum Genet       Date:  2007-01-05       Impact factor: 4.132

4.  Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children.

Authors:  Wilson Low; Mohamed Dirani; Gus Gazzard; Yiong-Huak Chan; Hui-Jun Zhou; Prabakaran Selvaraj; Kah-Guan Au Eong; Terri L Young; Paul Mitchell; Tien-Yin Wong; Seang-Mei Saw
Journal:  Br J Ophthalmol       Date:  2010-05-14       Impact factor: 4.638

5.  Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.

Authors:  Xian Yang; Xiaoqi Liu; Jie Peng; Hong Zheng; Fang Lu; Bo Gong; Guiqiu Zhao; Yan Meng; Hongzai Guan; Meizhen Ning; Zhenglin Yang; Yi Shi
Journal:  Genet Test Mol Biomarkers       Date:  2014-04-25

6.  [Ophthalmological screening via a hospital boat: field study for planning future health care services in remote villages at the Volta Lake in Ghana].

Authors:  A Frimpong-Boateng; F Rüfer; S Fiadoyor; J Nkrumah-Mills; F Mensah-Tetteh; N Kudoadzi; J Roider
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

7.  The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures.

Authors:  S Veerappan; M Schäche; K K Pertile; F M A Islam; C Y Chen; P Mitchell; M Dirani; P N Baird
Journal:  Mol Vis       Date:  2009-07-17       Impact factor: 2.367

8.  AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.

Authors:  Tsz Kin Ng; Ching Yan Lam; Dennis Shun Chiu Lam; Sylvia Wai Yee Chiang; Pancy Oi Sin Tam; Dan Yi Wang; Bao Jian Fan; Gary Hin-Fai Yam; Dorothy Shu Ping Fan; Chi Pui Pang
Journal:  Mol Vis       Date:  2009-11-05       Impact factor: 2.367

9.  A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1.

Authors:  Hideo Nakanishi; Ryo Yamada; Norimoto Gotoh; Hisako Hayashi; Kenji Yamashiro; Noriaki Shimada; Kyoko Ohno-Matsui; Manabu Mochizuki; Masaaki Saito; Tomohiro Iida; Keitaro Matsuo; Kazuo Tajima; Nagahisa Yoshimura; Fumihiko Matsuda
Journal:  PLoS Genet       Date:  2009-09-25       Impact factor: 5.917

10.  The hepatocyte growth factor receptor (MET) gene is not associated with refractive error and ocular biometrics in a Caucasian population.

Authors:  M Schache; C Y Chen; M Dirani; P N Baird
Journal:  Mol Vis       Date:  2009-12-04       Impact factor: 2.367

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