全基因组关联研究对屈光度和近视的研究、经验教训以及对未来的影响。
Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future.
机构信息
Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom Centre for Paediatric Epidemiology and Biostatistics, University College London Institute of Child Health, London, United Kingdom.
Johns Hopkins School of Public Health, Baltimore, Maryland, United States.
出版信息
Invest Ophthalmol Vis Sci. 2014 May 29;55(5):3344-51. doi: 10.1167/iovs.14-14149.
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.
摘要
随着全基因组关联研究（GWAS）的引入，对屈光不正和近视遗传基础的研究进入了一个新阶段。多年来，多个种族群体的多项 GWAS 研究已经发表，为屈光不正的遗传结构和病理生理学提供了新的见解。这是对迄今为止发表的 GWAS 的综述，主要的经验教训以及近视和屈光不正遗传研究的未来可能方向。
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本文引用的文献
1
Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts.
JAMA Ophthalmol. 2014 Jan;132(1):50-6. doi: 10.1001/jamaophthalmol.2013.6022.
2
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005.
3
Focusing in on the complex genetics of myopia.
PLoS Genet. 2013 Apr;9(4):e1003442. doi: 10.1371/journal.pgen.1003442. Epub 2013 Apr 4.
4
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.
PLoS Genet. 2013;9(2):e1003299. doi: 10.1371/journal.pgen.1003299. Epub 2013 Feb 28.
5
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.
6
Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.
Exp Eye Res. 2013 Sep;114:141-9. doi: 10.1016/j.exer.2012.12.015. Epub 2013 Feb 1.
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.
Invest Ophthalmol Vis Sci. 2012 Dec 5;53(13):7983-8. doi: 10.1167/iovs.12-10409.
8
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
Hum Genet. 2012 Sep;131(9):1467-80. doi: 10.1007/s00439-012-1176-0. Epub 2012 Jun 5.
9
Design considerations for genetic linkage and association studies.
Methods Mol Biol. 2012;850:237-62. doi: 10.1007/978-1-61779-555-8_13.
10
Exome sequencing identifies ZNF644 mutations in high myopia.
PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9.
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