Yao Yen-Po, Chien Hsiang-Wen, Wang Kai, Yang Yi-Sun, Su Shih-Chi, Chang Lun-Ching, Lin Hung-Yu, Yang Shun-Fa
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Department of Ophthalmology, Show Chwan Memorial Hospital, Changhua, Taiwan.
Eur J Ophthalmol. 2025 Mar;35(2):637-644. doi: 10.1177/11206721241266704. Epub 2024 Jul 26.
We attempted to test the influences of cyclin dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) gene polymorphisms on the susceptibility to Diabetic retinopathy (DR).
Five single-nucleotide polymorphisms (SNPs) of the CDKN2B-AS1 gene, rs564398, rs1333048, rs1537373, rs2151280, and rs8181047 were examined in 280 DR cases and 455 DR-free diabetic controls.
Among these loci tested, we demonstrated that diabetic carriers of at least one polymorphic allele (G) of rs2151280 (AG and GG; AOR, 1.613; 95% CI, 1.040-2.501; = 0.033) are more susceptible to proliferative DR but not non-proliferative DR. This genetic association with the risk of developing proliferative DR was further strengthened in homozygotes for the polymorphic allele (G) of rs2151280 (GG; AOR, 2.194; 95% CI, 1.117-4.308; = 0.023). We detected a significant association of the polymorphic allele (G) of rs2151280 with proliferative DR patients (OR, 1.503; 95% CI, 1.112-2.033; = 0.008) but not with the entire DR or non-proliferative DR group. Moreover, as compared to those who do not possess the polymorphic allele of rs2151280 (AA), DR patients carrying at least one polymorphic allele of rs2151280 (AG + GG) exhibited a lower glomerular filtration rate and HDL cholesterol level, revealing a promotive role of rs2151280 in renal and cardiovascular complications of diabetes.
Taken together, our findings implicate an impact of CDKN2B-AS1 gene polymorphisms on the progression of DR.
我们试图测试细胞周期蛋白依赖性激酶抑制剂2B反义RNA 1(CDKN2B-AS1)基因多态性对糖尿病视网膜病变(DR)易感性的影响。
在280例DR患者和455例无DR的糖尿病对照中检测了CDKN2B-AS1基因的5个单核苷酸多态性(SNP),即rs564398、rs1333048、rs1537373、rs2151280和rs8181047。
在这些检测的位点中,我们发现rs2151280至少一个多态性等位基因(G)的糖尿病携带者(AG和GG;优势比[AOR],1.613;95%置信区间[CI],1.040 - 2.501;P = 0.033)更易患增殖性DR,但不易患非增殖性DR。rs2151280多态性等位基因(G)的纯合子(GG;AOR,2.194;95% CI,1.117 - 4.308;P = 0.023)中,这种与发生增殖性DR风险的基因关联进一步增强。我们检测到rs2151280的多态性等位基因(G)与增殖性DR患者显著相关(比值比[OR],1.503;95% CI,1.112 - 2.033;P = 0.008),但与整个DR组或非增殖性DR组无关。此外,与不携带rs2151280多态性等位基因(AA)的患者相比,携带rs2151280至少一个多态性等位基因(AG + GG)的DR患者肾小球滤过率和高密度脂蛋白胆固醇水平较低,表明rs2151280在糖尿病的肾脏和心血管并发症中起促进作用。
综上所述,我们的研究结果表明CDKN2B-AS1基因多态性对DR的进展有影响。