Association of  IGF1  single-nucleotide polymorphisms with myopia in Chinese children

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Abstract

Purpose

To investigate the association between insulin-like growth factor 1 ( IGF1) single-nucleotide polymorphisms (SNPs) and myopia in a young Chinese population.

Methods

A total of 654 Chinese children aged 6–13 years from one primary school participated in our study and underwent a series of comprehensive ocular examinations, including cycloplegic refraction and measurements of axial length. Myopia was defined as a spherical equivalence (SE) ≤ −0.5 D in the worse eye. In total, six tagging SNPs of IGF1 were genotyped using the PCR-LDR (Polymerase Chain Reaction-Ligation Detection Reaction) method. We tested four different genetic modes (the allele, dominant, recessive, and additive models) of these SNPs and used multivariate logistic regression to calculate the effect of SNPs on myopia. In addition, we conducted a haplotype analysis with a variable-sized slide-window strategy.

Results

Overall, 281 myopic children and 373 non-myopic controls were included in the analysis. The SNP rs2162679 showed a statistical difference between the two groups in both the allele ( p = 0.0474) and additive ( p = 0.0497) models. After adjusting for age and gender, children with the genotype AA in the SNP rs2162679 had a higher risk of myopia than those with the genotype GG (OR = 2.219, 95% CI [1.218–4.039], p = 0.009). All haplotypes that varied significantly between the two groups contained the SNP rs2162679, and the four-SNP window rs5742653– rs2162679 had the lowest p value (Chi square = 5.768, p = 0.0163). However, after permutation tests, none of the associations remained statistically significant.

Conclusion

The SNP rs2162679 in IGF1 was associated with myopia in a young Chinese population. The G allele in the SNP rs2162679 may protect against myopia.

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Most cited references 32

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The epidemics of myopia: Aetiology and prevention.

Ian G. Morgan, Amanda N. French, Regan S. Ashby … (2018)

There is an epidemic of myopia in East and Southeast Asia, with the prevalence of myopia in young adults around 80-90%, and an accompanying high prevalence of high myopia in young adults (10-20%). This may foreshadow an increase in low vision and blindness due to pathological myopia. These two epidemics are linked, since the increasingly early onset of myopia, combined with high progression rates, naturally generates an epidemic of high myopia, with high prevalences of "acquired" high myopia appearing around the age of 11-13. The major risk factors identified are intensive education, and limited time outdoors. The localization of the epidemic appears to be due to the high educational pressures and limited time outdoors in the region, rather than to genetically elevated sensitivity to these factors. Causality has been demonstrated in the case of time outdoors through randomized clinical trials in which increased time outdoors in schools has prevented the onset of myopia. In the case of educational pressures, evidence of causality comes from the high prevalence of myopia and high myopia in Jewish boys attending Orthodox schools in Israel compared to their sisters attending religious schools, and boys and girls attending secular schools. 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. Reforms to the organization of school systems to reduce intense early competition for accelerated learning pathways may also be important.

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Normal growth and development in the absence of hepatic insulin-like growth factor I.

S Yakar, J. L. Liu, B Stannard … (1999)

The somatomedin hypothesis proposed that insulin-like growth factor I (IGF-I) was a hepatically derived circulating mediator of growth hormone and is a crucial factor for postnatal growth and development. To reassess this hypothesis, we have used the Cre/loxP recombination system to delete the igf1 gene exclusively in the liver. igf1 gene deletion in the liver abrogated expression of igf1 mRNA and caused a dramatic reduction in circulating IGF-I levels. However, growth as determined by body weight, body length, and femoral length did not differ from wild-type littermates. Although our model proves that hepatic IGF-I is indeed the major contributor to circulating IGF-I levels in mice it challenges the concept that circulating IGF-I is crucial for normal postnatal growth. Rather, our model provides direct evidence for the importance of the autocrine/paracrine role of IGF-I.

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Causes of blindness and visual impairment in urban and rural areas in Beijing: the Beijing Eye Study.

Liang Xu, Yaxing Wang, Yibin Li … (2006)

To evaluate the causes of visual impairment and blindness in adult Chinese in an urban and rural region of Beijing, China. Population-based prevalence survey. From a rural region and an urban region of Greater Beijing, 4439 of 5324 > or=40-year-old invited subjects participated in the study (response rate, 83.4%). Using the World Health Organization (WHO) standard and the United States standard, blindness was defined as best-corrected visual acuity (BCVA) in the better-seeing eye of or =20/400, and of or =2/20, respectively. Determination of BCVA, pneumotonometry, frequency doubling perimetry, evaluation of photographs of the fundus and lens, and clinical examination. Causes of visual impairment and blindness. Visual acuity measurements were available for 8816 eyes of 4409 subjects (99.3%). Using the WHO standard and the U.S. standard, 49 (1.1%) subjects and 95 (2.2%) subjects, respectively, had low vision, and 13 (0.3%) subjects and 15 (0.3%) subjects, respectively, were blind by definition. Taking the whole study population, the most frequent cause of low vision/blindness was cataract (36.7%/38.5%), followed by degenerative myopia (32.7%/7.7%), glaucoma (14.3%/7.7%), corneal opacity (6.1%/15.4%), and other optic nerve damage (2.0%/7.7%). Age-related macular degeneration (AMD) (2.0%/7.7%) and diabetic retinopathy (0%/7.7%) were responsible for a minority of cases. In subjects 40 to 49 years old, the most frequent cause of low vision and blindness was degenerative myopia. In the 50- to 59-year age group, the most frequent cause was cataract, followed by degenerative myopia. In the 60- to 69-year-old subjects and the > or =70-year group, the most frequent cause of low vision and blindness was cataract, followed by degenerative myopia and glaucoma. The most frequent cause of low vision and blindness in adult Chinese is cataract, followed by degenerative myopia and glaucomatous optic neuropathy, with degenerative myopia dominating in younger groups and cataract dominating in elder groups. In contrast to studies in Western countries, AMD and diabetic retinopathy appear to play a minor role as a cause of visual impairment in elderly Chinese.

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Author and article information

Contributors

Xiangui He

Journal

Journal ID (nlm-ta): PeerJ

Journal ID (iso-abbrev): PeerJ

Journal ID (publisher-id): peerj

Journal ID (pmc): peerj

Title: PeerJ

Publisher: PeerJ Inc. (San Diego, USA )

ISSN (Electronic): 2167-8359

Publication date (Electronic): 27 January 2020

Publication date Collection: 2020

Volume: 8

Electronic Location Identifier: e8436

Affiliations

[1 ]Department of Preventative Ophthalmology, Shanghai Eye Disease Prevention and Treatment Center, Shanghai Eye Hospital , Shanghai, China

[2 ]Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, National Clinical Research Center for Eye Diseases, Shanghai Key Laboratory of Ocular Fundus Diseases, Shanghai Engineering Center for Visual Science and Photomedicine, Shanghai engineering center for precise diagnosis and treatment of eye diseases , Shanghai, China

[3 ]Baoshan Center for Disease Prevention and Control , Shanghai, China

Article

Publisher ID: 8436

DOI: 10.7717/peerj.8436

PMC ID: 6991122

PubMed ID: 32025377

SO-VID: 53aec0b3-af76-4bed-8669-58c1f3b9d621

License:

This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited.

History

Date received : 28 August 2019

Date accepted : 19 December 2019

Funding

Funded by: National Natural Science Foundation of China

Award ID: 81402695

Funded by: National Key R&D Program of China

Award ID: 2016YFC0904800

Award ID: 2019YFC0840607

Funded by: National Science and Technology Major Project of China

Award ID: 2017ZX09304010

This work was supported by the National Natural Science Foundation of China (No. 81402695), the National Key R&D Program of China (2016YFC0904800, 2019YFC0840607), and the National Science and Technology Major Project of China (2017ZX09304010). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Association of IGF1 single-nucleotide polymorphisms with myopia in Chinese children

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Abstract

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Conclusion

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Arabidopsis genomics

Most cited references 32

The epidemics of myopia: Aetiology and prevention.

Normal growth and development in the absence of hepatic insulin-like growth factor I.

Causes of blindness and visual impairment in urban and rural areas in Beijing: the Beijing Eye Study.

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