Journal Article10.1177/1120672120904666
Genetic association study of SOX2 gene polymorphisms with high myopia in a Chinese population.
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TL;DR: In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia; the rs4575841 allele G might be a risk gene for high myopic.
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Abstract: Purpose:The aim of this study is to investigate whether SOX2 gene variants were associated with high myopia in a Chinese population.Methods:This study is conducted using case-control association an...
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Citations
Extreme myopia is more susceptible to SOX2 gene than high myopia.
TL;DR: In this paper , the association between two single-nucleotide polymorphisms (SNPs) in the SOX2 gene and high and extreme myopia in the Han Chinese population was explored.
Genetic susceptibility to high myopia in Han Chinese population
Yufei Li,Ying Zhang,Ping Zhang,Lei Gao,Qingyue Ma,Jin Li,Sheng-Li Wang,Bing Liu,Xinye Wang,Chao Meng +9 more
TL;DR: The findings indicated that rs2236416 of MMP-9 was associated with myopia in the population, and suggested M MP-9 gene locus may play a role in myopia.
Additional file 1 of Identification of potential biomarkers of myopia based on machine learning algorithms
Shengnan Zhang,Tao Wang,H. B. Wang,Bingfang Gao,Chao Sun +4 more
- 01 Jan 2023
Abstract: Additional file 1.
Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family
Kashmala Samad,Khalaf F. Alsharif,Fazeelat Samad,Farman Ullah,Muhammad Zeeshan Ali,Safeer Ahmad,Muhammad Muzammal,Sumra Wajid Abbasi,Jabbar Khan,Muzammil Ahmad Khan +9 more
TL;DR: A consanguineous Pakistani family with bilateral anophthalmia is linked to a protein-truncating splice site variant in the ALDH1A3 gene, identified through whole exome sequencing and in silico analysis, confirming a genotype-phenotype correlation for this gene.
References
Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050.
Brien A. Holden,Timothy R. Fricke,David A. Wilson,Monica Jong,Kovin Naidoo,Kovin Naidoo,Kovin Naidoo,Padmaja Sankaridurg,Padmaja Sankaridurg,Tien Yin Wong,Thomas Naduvilath,Serge Resnikoff,Serge Resnikoff +12 more
TL;DR: Myopia and high myopia estimates from 2000 to 2050 suggest significant increases in prevalences globally, with implications for planning services, including managing and preventing myopia-related ocular complications and vision loss among almost 1 billion people with highMyopia.
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The epidemics of myopia: Aetiology and prevention.
Ian G. Morgan,Ian G. Morgan,Amanda French,Regan Ashby,Xinxing Guo,Xiaohu Ding,Mingguang He,Kathryn A. Rose +7 more
TL;DR: Combining increased time outdoors in schools, to slow the onset of myopia, with clinical methods for slowing myopic progression, should lead to the control of this epidemic, which would otherwise pose a major health challenge.
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The myopia boom
TL;DR: Short-sightedness is reaching epidemic proportions. Some scientists think they have found a reason why as mentioned in this paper. But they have not found a solution to the root cause of shortsightedness.
Epidemiology of myopia
Paul J. Foster,Yuzhen Jiang +1 more
TL;DR: The past decade has seen a greater understanding of the molecular biological mechanisms that determine refractive error, giving further support to the belief that myopia is the result of a complex interaction between genetic predisposition and environmental exposures.
Mutations in SOX2 cause anophthalmia
J. Fantes,Nicola K Ragge,Nicola K Ragge,Sally-Ann Lynch,Niolette I. McGill,J. Richard O. Collin,Patricia N. Howard-Peebles,Caroline Hayward,Anthony J. Vivian,Kathy Williamson,Veronica van Heyningen,David R. FitzPatrick +11 more
TL;DR: A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia and de novo truncating mutations ofSOX2 were identified in 4 of 35 individuals with anophilethalmia.