Department of Ophthalmology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China (mainland).
Department of Forensic Medicine, School of Medicine and Forensics, Xi'an Jiaotong University, Xi'an, Shaanxi, China (mainland).
Med Sci Monit. 2023 Jan 30;29:e937702. doi: 10.12659/MSM.937702.
BACKGROUND Myopia has been shown to be associated with many pathological complications including cataracts, and previous evidence supported that high myopia facilitates the formation of cataracts. However, no studies have identified a link between the genetic susceptibility of high myopia-induced cataracts (HMC) and the underlying genetic mechanisms. Our study aimed to determine how the TRIB2 and CAPRIN2 genes correlate to the risk of HMC. MATERIAL AND METHODS In total, we successfully recruited 3162 participants, including 1026 participants with high myopia and cataracts and 2136 controls with high myopia only. For genotyping, 22 tag single nucleotide polymorphisms (SNPs) in TRIB2 and CAPRIN2 genes were chosen. Single marker association analysis and functional effects of significant SNPs were carried out. RESULTS Strong correlation signals were captured for SNP rs890069 (χ²=22.13, P=2.55×10-6) in TRIB2 and SNP rs17739338 (χ²=16.07, P=6.10×10-5) in CAPRIN2. In patients with high myopia, the C allele at SNP rs890069 was strongly linked to cataract risk (OR [95% CI]=1.36 [1.20-1.55]). In patients with high myopia, the T allele at SNP rs17739338 was significantly related to a lower risk of cataract (OR [95% CI]=0.54 [0.40-0.74]). In different types of human tissues, SNPs rs890069 and rs17739338 were found to be significantly correlated to the levels of TRIB2 and CAPRIN2 gene expression. CONCLUSIONS Our study indicated that both TRIB2 and CAPRIN2 genes conferred the susceptibility to cataract in patients with high myopia and Chinese Han ancestry. Future research remains necessary for fully understanding the pathogenic mechanisms and genetic characteristics of cataract.
近视与许多病理并发症有关，包括白内障，先前的证据表明高度近视有助于白内障的形成。然而，尚无研究确定高度近视性白内障（HMC）的遗传易感性与潜在遗传机制之间的联系。我们的研究旨在确定 TRIB2 和 CAPRIN2 基因与 HMC 风险的相关性。
共成功招募了 3162 名参与者，包括 1026 名高度近视伴白内障患者和 2136 名单纯高度近视对照者。选择了 TRIB2 和 CAPRIN2 基因中的 22 个标签单核苷酸多态性（SNP）进行基因分型。进行了单标记关联分析和显著 SNP 的功能效应分析。
在 TRIB2 中的 SNP rs890069（χ²=22.13，P=2.55×10-6）和 CAPRIN2 中的 SNP rs17739338（χ²=16.07，P=6.10×10-5）捕获到了强相关信号。在高度近视患者中，SNP rs890069 的 C 等位基因与白内障风险密切相关（OR[95%CI]=1.36[1.20-1.55]）。在高度近视患者中，SNP rs17739338 的 T 等位基因与白内障风险降低显著相关（OR[95%CI]=0.54[0.40-0.74]）。在不同类型的人体组织中，SNP rs890069 和 rs17739338 与 TRIB2 和 CAPRIN2 基因表达水平显著相关。
本研究表明，TRIB2 和 CAPRIN2 基因均使汉族高度近视患者易患白内障。需要进一步研究以充分了解白内障的发病机制和遗传特征。
