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中国汉族青年成年人屈光不正和眼部生物测量参数的新基因座

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

作者信息

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

机构信息

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

Beijing Institute of Ophthalmology, Beijing, 100730, China.

出版信息

Sci China Life Sci. 2022 Oct;65(10):2050-2061. doi: 10.1007/s11427-021-2069-7. Epub 2022 Mar 14.

DOI:10.1007/s11427-021-2069-7
PMID:35301706
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.

摘要

随着近视患病率的不断上升,近视已成为一个主要的公共卫生问题。仍有一些人经历相似的环境风险因素,但却未患近视。因此,可能存在保护人们不患近视的遗传因素。考虑到原发性闭角型青光眼(PACG)与近视相反的眼部特征以及它们之间可能的共同途径,我们提出某些PACG风险基因可能作为近视的保护因素。在本研究中,对2678名年轻成年人进行了37个靶向单核苷酸多态性的基因分型。与正视相比,rs1401999(等位基因C:OR = 0.795,P = 0.03;显性模型中的基因型:OR = 0.759,P = 0.02)和rs1258267(等位基因A:OR = 0.824,P = 0.03;显性模型中的基因型:OR = 0.603,P = 0.01)分别与轻度至中度近视和高度近视相关。rs11024102隐性模型下的基因型与近视(OR = 1.456,P = )、轻度至中度近视(OR = 1.443,P = 0.02)和高度近视(OR = 1.453,P = 0.02)相关。然而,这些关联在Bonferroni校正后不显著。此外,rs1401999、rs1258267和rs11024102在不同组中与某些眼部生物测量参数相关。我们的研究表明,就未校正结果及其生物学功能而言,ABCC5、CHAT和PLEKHA7可能通过参与眼部生物测量的调节而与屈光不正相关。

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