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基因关联研究揭示三个基因座与未成年人近视风险相关。

Genetic Association Study Revealed Three Loci Were Associated Risk of Myopia Among Minors.

作者信息

Zhou Zixiu, Li Sizhen, Yang Qingsong, Yang Xiaodong, Hao Kuanxiao, Liu Yating, Xu Shanshan

机构信息

Nanjing Tongren Hospital, School of Medicine, Southeast University, Nanjing, 211102, People's Republic of China.

出版信息

Pharmgenomics Pers Med. 2021 May 11;14:547-551. doi: 10.2147/PGPM.S296444. eCollection 2021.

Abstract

BACKGROUND

Myopia has raised a predominant public concern among minors. A recent genome-wide association study (GWAS) identified six novel loci in Asian adults. Whether these genetic loci works for myopia in minors remains unknown and worthy of exploration.

METHODS

In order to validate the findings, here we performed a case-control study (600 myopia minors, 110 high myopia (HM) minors, and 800 non-myopia minors as controls) utilizing the TaqMan single nucleotide polymorphism (SNP) genotyping assays. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) was adopted.

RESULTS

The median ages in controls, myopia, and HM were 15.1, 15.0, and 15.1, respectively, while the means ± standard deviations for them were 0.32±0.41, - 3.2 ±1.6, and -9.8±2.2, respectively. We found rs2246661 (allelic OR: 1.29; 95% CI: 1.09-1.52; P =0.003), rs74633073 (allelic OR: 1.41; 95% CI: 1.12-1.78; P =0.004), and rs76903431 (allelic OR: 1.42; 95% CI: 1.11-1.81; P =0.005) were significantly associated with increased risk of myopia. Rs2246661 was also significantly associated with increased risk of HM in minors (OR: 1.37; 95% CI: 1.02-1.84; P =0.035).

CONCLUSION

We identified three loci contributed to myopia in minors and these findings gave new insight into the genetic susceptibility mechanisms of myopia at the molecular level.

摘要

背景

近视已引起未成年人中公众的主要关注。最近一项全基因组关联研究(GWAS)在亚洲成年人中鉴定出六个新的基因座。这些基因座是否对未成年人近视起作用仍不清楚,值得探索。

方法

为了验证这些发现,我们在此进行了一项病例对照研究(600名近视未成年人、110名高度近视(HM)未成年人和800名非近视未成年人作为对照),采用TaqMan单核苷酸多态性(SNP)基因分型检测。采用调整后的优势比(OR)和95%置信区间(CI)。

结果

对照组、近视组和高度近视组的年龄中位数分别为15.1、15.0和15.1,而它们的均值±标准差分别为0.32±0.41、-3.2±1.6和-9.8±2.2。我们发现rs2246661(等位基因OR:1.29;95%CI:1.09-1.52;P =0.003)、rs74633073(等位基因OR:1.41;95%CI:1.12-1.78;P =0.004)和rs76903431(等位基因OR:1.42;95%CI:1.11-1.81;P =0.005)与近视风险增加显著相关。rs2246661也与未成年人高度近视风险增加显著相关(OR:1.37;95%CI:1.02-1.84;P =0.035)。

结论

我们鉴定出三个导致未成年人近视的基因座,这些发现为近视在分子水平上的遗传易感性机制提供了新的见解。

相似文献

本文引用的文献

1
Myopia.近视。
Nat Rev Dis Primers. 2020 Dec 17;6(1):99. doi: 10.1038/s41572-020-00231-4.
2
School-based epidemiology study of myopia in Tianjin, China.中国天津市基于学校的近视流行病学研究。
Int Ophthalmol. 2020 Sep;40(9):2213-2222. doi: 10.1007/s10792-020-01400-w. Epub 2020 May 29.

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