Department of Biomedical Engineering, TOBB University of Economics and Technology, Söğütözü, 06560, Ankara, Turkey.
BMC Ophthalmol. 2023 Mar 23;23(1):117. doi: 10.1186/s12886-023-02850-3.
Pseudoexfoliation syndrome (PEX) is distinguished by the deposition of fibrillary material within the aqueous humor and, in most cases, causes pseudoexfoliative glaucoma (PEG). The pathophysiologies of PEX and PEG are not completely explained. Therefore, this study aimed to assess the potential relationship between single nucleotide polymorphisms (SNPs) in the 3' untranslated region or introns of the clusterin gene (CLU) and the susceptibility to developing PEG or PEX.
Two hundred and forty patients with PEX, 239 patients with PEG, and 240 control subjects were included. Genotyping was carried out using real-time PCR (rs2279590 C/T and rs1532278 C/T) or PCR followed by restriction endonuclease digestion (rs11136000 C/T and rs3087554 T/C).
The minor alleles or genotypes of CLU SNPs were not significantly associated with PEX or PEG. IOP values of patients with PEX carrying the homozygote polymorphic TT genotype were significantly elevated compared with PEX cases with the CT or CC genotypes for rs2279590, rs11136000 and rs1532278 (P = .009, P = .007, P = .010, respectively).
We present the first evidence that three SNPs in CLU gene (rs2279590, rs11136000 and rs1532278) might induce a rise in IOP in patients with PEX, conferring susceptibility to develop PEG.
假性剥脱综合征（PEX）的特征是房水中纤维状物质的沉积，在大多数情况下，会导致假性剥脱性青光眼（PEG）。PEX 和 PEG 的病理生理学尚未完全阐明。因此，本研究旨在评估载脂蛋白 E 基因（CLU）3'非翻译区或内含子中单核苷酸多态性（SNPs）与发生 PEG 或 PEX 的易感性之间的潜在关系。
纳入 240 例 PEX 患者、239 例 PEG 患者和 240 例对照者。采用实时 PCR（rs2279590 C/T 和 rs1532278 C/T）或 PCR 后限制性内切酶消化（rs11136000 C/T 和 rs3087554 T/C）进行基因分型。
CLU SNPs 的次要等位基因或基因型与 PEX 或 PEG 无显著相关性。与 rs2279590、rs11136000 和 rs1532278 的 CT 或 CC 基因型相比，携带 TT 纯合多态性基因型的 PEX 患者的 IOP 值明显升高（P=0.009、P=0.007、P=0.010）。
我们首次提供了证据表明，CLU 基因中的三个 SNPs（rs2279590、rs11136000 和 rs1532278）可能会导致 PEX 患者的眼压升高，从而易患 PEG。
