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CLC number: R778.1+1

On-line Access: 2016-03-07

Received: 2015-09-25

Revision Accepted: 2015-12-24

Crosschecked: 2016-02-15

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Citations:  Bibtex RefMan EndNote GB/T7714


Wei Han


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Journal of Zhejiang University SCIENCE B 2016 Vol.17 No.3 P.225-235


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

Author(s):  Fang-yu Lin, Zhu Huang, Ning Lu, Wei Chen, Hui Fang, Wei Han

Affiliation(s):  Department of Ophthalmology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China; more

Corresponding email(s):   hanweidr@hotmail.com

Key Words:  Myopia, EGR1, LAMA2, Association study, Single nucleotide polymorphism

Fang-yu Lin, Zhu Huang, Ning Lu, Wei Chen, Hui Fang, Wei Han. Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations[J]. Journal of Zhejiang University Science B, 2016, 17(3): 225-235.

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author="Fang-yu Lin, Zhu Huang, Ning Lu, Wei Chen, Hui Fang, Wei Han",
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publisher="Zhejiang University Press & Springer",

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%T Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations
%A Fang-yu Lin
%A Zhu Huang
%A Ning Lu
%A Wei Chen
%A Hui Fang
%A Wei Han
%J Journal of Zhejiang University SCIENCE B
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%P 225-235
%@ 1673-1581
%D 2016
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1500233

T1 - Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations
A1 - Fang-yu Lin
A1 - Zhu Huang
A1 - Ning Lu
A1 - Wei Chen
A1 - Hui Fang
A1 - Wei Han
J0 - Journal of Zhejiang University Science B
VL - 17
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SP - 225
EP - 235
%@ 1673-1581
Y1 - 2016
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1500233

Functional studies have suggested the important role of early growth response 1 (EGR1) and Laminin α2-chain (LAMA2) in human eye development. Genetic studies have reported a significant association of the single nucleotide polymorphism (SNP) in the LAMA2 gene with myopia. This study aimed to evaluate the association of the tagging SNPs (tSNPs) in the EGR1 and LAMA2 genes with high myopia in two independent Han Chinese populations. Four tSNPs (rs11743810 in the EGR1 gene; rs2571575, rs9321170, and rs1889891 in the LAMA2 gene) were selected, according to the HapMap database (http://hapmap.ncbi.nlm.nih.gov), and were genotyped using the ligase detection reaction (LDR) approach for 167 Han Chinese nuclear families with extremely highly myopic offspring (<−10.0 diopters) and an independent group with 485 extremely highly myopic cases (<−10.0 diopters) and 499 controls. Direct sequencing was used to confirm the LDR results in twenty randomly selected subjects. Family-based association analysis was performed using the family-based association test (FBAT) software package (Version 1.5.5). Population-based association analysis was performed using the Chi-square test. The association analysis power was estimated using online software (http://design.cs.ucla.edu). The FBAT demonstrated that all four tSNPs tested did not show association with high myopia (P>0.05). Haplotype analysis of tSNPs in the LAMA2 genes also did not show a significant association (P>0.05). Meanwhile, population-based association analysis also showed no significant association results with high myopia (P>0.05). On the basis of our family- and population-based analyses for the Han Chinese population, we did not find positive association signals of the four SNPs in the LAMA2 and EGR1 genes with high myopia.




Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article


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[34]Our study has invited some controversy as follows:

[35]The authors have picked four tag SNPs from a gene that in the original studies (Verhoeven et al., 2013; Kiefer et al., 2013) were not associated with refraction or myopia, despite employing sample sizes more than 100 times larger than that in the current study; essentially they were doing the same thing, with lesser tools, but hoping for better results (extracted from reviewer’s comments).

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