RASGRF1基因遗传多态性与甘肃地区近视易感性的相关性

doi:10.3760/cma.j.cn115909-20210707-00268

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Abstract Objective: To analyze the association between the SNPs in the cis-regulatory elements of the RASGRF1 gene and myopia patients in Gansu province. Methods: In a prospective case-control study, 166 patients with high myopia (332 eyes), 92 patients with moderate and low myopia (184 eyes) and 77 people from a normal control population (154 eyes) were enrolled in the Optometry Center, Gansu Provincial Hospital from January 2018 to January 2019. Five SNPs were identified using ENCODE and GTEx, and candidate SNPs were genotyped using a multiple ligase detection reaction technique. A Chi-square test and unconditional logistic regression were used to analyze the differences in genotype frequency distribution between the myopia patients and the normal control population under different genetic patterns. Results:Rs8033417 T/C allele C significantly reduced the risk of myopia in the dominant mode (P=0.035). Rs8033417 had no significant correlation with the risk of moderate and low myopia in Gansu, but it significantly reduced the risk of high myopia (P=0.043, 0.032). Further bioinformatics analysis showed that rs8033417 T/C was correlated with the expression of RP11-16K12.1, the antisense long non-coding RNA of the RASGRF1 gene. Conclusion: Rs8033417 may be a genetic variation locus associated with myopia in Gansu province. It is speculated that rs8033417 may affect the risk of myopia, especially high myopia, by affecting the expression of the antisense long non-coding RNA gene RP11-16K12.1 and then regulating the expression of the RASGRF1 gene

Key words： myopia RASGRF1 RP11-16K12.1 single nucleotide polymorphism long non-coding RNA

Received: 07 July 2021

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Fund:Natural Science Foundation of Gansu Province (17JR5RA039)

Corresponding Authors: Jun Yang, Optometry Center, Gansu Provincial Hospital, Lanzhou 700030, China (Email: 13519612003@163.com)

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	Xiangli Wang1
	Liyuan Yang1
	Yong Jin1
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Xiangli Wang1,Liyuan Yang1,Yong Jin1等. Study on the Association between RASGRF1 Genetic Polymorphisms and Myopia Susceptibility in Gansu Province[J]. Chinese Journal of Optometry Ophthalmology and Visual science, 2022, 24(3): 198-207.

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https://www.cjoovs.com/EN/10.3760/cma.j.cn115909-20210707-00268 OR https://www.cjoovs.com/EN/Y2022/V24/I3/198

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