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New loci for refractive errors and ocular biometric parameters in young Chinese Han adults

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Abstract

Myopia has become a major public health issue with an increasing prevalence. There are still individuals who experience similar environmental risk factors and, yet, remain non-myopic. Thus, there might be genetic factors protecting people from myopia. Considering the opposite ocular characteristics of primary angle closure glaucoma (PACG) to myopia and possible common pathway between them, we propose that certain risk genes for PACG might act as a protective factor for myopia. In this study, 2,678 young adults were genotyped for 37 targeted single nucleotide polymorphisms. Compared with emmetropia, rs1401999 (allele C: OR=0.795, P=0.03; genotype in dominant model: OR=0.759, P=0.02) and rs1258267 (allele A: OR=0.824, P=0.03; genotype in dominant model: OR=0.603, P=0.01) were associated with low to moderate myopia and high myopia, respectively. Genotype under recessive model of rs11024102 was correlated with myopia (OR=1.456, P=0.01), low to moderate myopia (OR=1.443, P=0.02) and high myopia (OR=1.453, P=0.02). However, these associations did not survive Bonferroni correction. Moreover, rs1401999, rs1258267, and rs11024102 showed associations with certain ocular biometric parameters in different groups. Our study suggests that ABCC5, CHAT and PLEKHA7 might be associated with refractive errors by contributing to the regulation of ocular biometry, in terms of uncorrected results and their biological functions.

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Acknowledgements

This work was supported by the Natural Science Foundation of Capital Medical University, Beijing, China (PYZ20107), the Integration, Translation and Development on Ophthalmic Technology (Jingyiyan 2016-5), the Major International (Regional) Joint Research Project of the National Natural Science Foundation of China (81120108007), the Youth Top Talent Project of Beijing Tongren Hospital (2020-YJJ-ZZL-013) and the Beijing Natural Science Foundation (JQ20029).

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  1. Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, 100730, China

    Yunyun Sun, Zi-Bing Jin, Shifei Wei, Hongyan Jia, Kai Cao, Jianping Hu, Caixia Lin, Wenzai An, Jing Fu, Shi-Ming Li & Ningli Wang

  2. Beijing Institute of Ophthalmology, Beijing, 100730, China

    Zi-Bing Jin, Kai Cao, Jianping Hu, Wenzai An & Ningli Wang

  3. Anyang Eye Hospital, Anyang, 455000, China

    Jiyuan Guo & He Li

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  1. Yunyun Sun
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Compliance and ethics The author(s) declare that they have no conflict of interest. This study adhered to the tenets of the Declaration of Helsinki and ethical approval was obtained from the ethics committee (Institutional Review Board of Beijing Tongren Hospital, Capital Medical University). Written informed consent was given by all participants prior to the study.

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Sun, Y., Jin, ZB., Wei, S. et al. New loci for refractive errors and ocular biometric parameters in young Chinese Han adults. Sci. China Life Sci. 65, 2050–2061 (2022). https://doi.org/10.1007/s11427-021-2069-7

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