当前位置：
X-MOL 学术
›
Exp. Eye Res.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
COL2A1 protective variant reduces sporadic rhegmatogenous retinal detachment severity.
Experimental Eye Research ( IF 3.4 ) Pub Date : 2019-12-31 , DOI: 10.1016/j.exer.2019.107907 Tsz Kin Ng 1 , Wanghao Chen 2 , Qianwen Chen 2 , Yuqian Zheng 2 , Yanxuan Xu 2 , Weiqi Chen 2 , Guihua Zhang 2 , Jianhuan Chen 2 , Chi Pui Pang 3 , Haoyu Chen 2
Experimental Eye Research ( IF 3.4 ) Pub Date : 2019-12-31 , DOI: 10.1016/j.exer.2019.107907 Tsz Kin Ng 1 , Wanghao Chen 2 , Qianwen Chen 2 , Yuqian Zheng 2 , Yanxuan Xu 2 , Weiqi Chen 2 , Guihua Zhang 2 , Jianhuan Chen 2 , Chi Pui Pang 3 , Haoyu Chen 2
Affiliation
Rhegmatogenous retinal detachment (RRD) is the most common type of RD, the separation of neurosensory retina from the underlying retinal pigment epithelium. The RRD patients can be benefited from appropriate treatment if detected early, especially for the people predicted at high risk. In this study, we aimed to investigate the genetic association and clinical correlation of collagen type II alpha 1 (COL2A1) variants with sporadic RRD in a southern Chinese population. Totally 156 RRD patients and 254 control subjects were recruited, and 12 COL2A1 tag single nucleotide polymorphisms were genotyped by the TaqMan assay. The RRD patients had poorer visual acuity (P < 0.001) and lower intraocular pressure (IOP; P < 0.001) in their surgical eyes compared to the fellow eyes. The COL2A1 rs1793958 variant was significantly associated with RRD in the genotypic (P = 0.024), allelic (P = 0.011, odds ratio (OR) = 0.669), recessive (P = 0.011, OR = 0.384) and homozygous models (P = 0.007, OR = 0.348). RRD patients carrying the rs1793958 G allele had smaller retinal detachment area (P = 0.041) and smaller IOP differences (P = 0.046) between the surgical and fellow eyes compared to those carrying the wildtype AA genotype. In summary, this study revealed that the COL2A1 rs1793958 variant is associated with reduced risk of sporadic RRD, and patients carrying rs1793958 G allele have lower RRD severity.
中文翻译：
COL2A1保护性变体可降低散发性流源性视网膜脱离的严重程度。
孔源性视网膜脱离（RRD）是RD的最常见类型，即从下层视网膜色素上皮中分离出神经感觉视网膜。如果尽早发现RRD患者，则可以从适当的治疗中受益，特别是对于那些预测为高风险人群。在这项研究中，我们旨在调查华人南部人群中II型胶原1α（COL2A1）变体与散发性RRD的遗传关联和临床相关性。总共招募了156名RRD患者和254名对照受试者，并通过TaqMan分析对12个COL2A1标签单核苷酸多态性进行了基因分型。与其他眼睛相比，RRD患者的手术眼的视力较差（P <0.001），眼内压较低（IOP； P <0.001）。COL2A1 rs1793958变体在基因型（P = 0.024），等位基因（P = 0.011，优势比（OR）= 0.669），隐性（P = 0.011，OR = 0.384）和纯合模型（P = 0.007）中与RRD显着相关，或= 0.348）。与携带野生型AA基因型的人相比，带有rs1793958 G等位基因的RRD患者的手术眼和同伴眼的视网膜脱离面积较小（P = 0.041），而IOP差异较小（P = 0.046）。总而言之，这项研究表明，COL2A1 rs1793958变体与散发RRD的风险降低相关，携带rs1793958 G等位基因的患者的RRD严重程度较低。与携带野生型AA基因型的人相比，带有rs1793958 G等位基因的RRD患者的手术眼和同伴眼的视网膜脱离面积较小（P = 0.041），而IOP差异较小（P = 0.046）。总而言之，这项研究表明，COL2A1 rs1793958变体与散发RRD的风险降低相关，携带rs1793958 G等位基因的患者的RRD严重程度较低。与携带野生型AA基因型的人相比，带有rs1793958 G等位基因的RRD患者的手术眼和同伴眼的视网膜脱离面积较小（P = 0.041），而IOP差异较小（P = 0.046）。总而言之，这项研究表明，COL2A1 rs1793958变体与散发RRD的风险降低相关，携带rs1793958 G等位基因的患者的RRD严重程度较低。
更新日期：2019-12-31
中文翻译：
COL2A1保护性变体可降低散发性流源性视网膜脱离的严重程度。
孔源性视网膜脱离（RRD）是RD的最常见类型，即从下层视网膜色素上皮中分离出神经感觉视网膜。如果尽早发现RRD患者，则可以从适当的治疗中受益，特别是对于那些预测为高风险人群。在这项研究中，我们旨在调查华人南部人群中II型胶原1α（COL2A1）变体与散发性RRD的遗传关联和临床相关性。总共招募了156名RRD患者和254名对照受试者，并通过TaqMan分析对12个COL2A1标签单核苷酸多态性进行了基因分型。与其他眼睛相比，RRD患者的手术眼的视力较差（P <0.001），眼内压较低（IOP； P <0.001）。COL2A1 rs1793958变体在基因型（P = 0.024），等位基因（P = 0.011，优势比（OR）= 0.669），隐性（P = 0.011，OR = 0.384）和纯合模型（P = 0.007）中与RRD显着相关，或= 0.348）。与携带野生型AA基因型的人相比，带有rs1793958 G等位基因的RRD患者的手术眼和同伴眼的视网膜脱离面积较小（P = 0.041），而IOP差异较小（P = 0.046）。总而言之，这项研究表明，COL2A1 rs1793958变体与散发RRD的风险降低相关，携带rs1793958 G等位基因的患者的RRD严重程度较低。与携带野生型AA基因型的人相比，带有rs1793958 G等位基因的RRD患者的手术眼和同伴眼的视网膜脱离面积较小（P = 0.041），而IOP差异较小（P = 0.046）。总而言之，这项研究表明，COL2A1 rs1793958变体与散发RRD的风险降低相关，携带rs1793958 G等位基因的患者的RRD严重程度较低。与携带野生型AA基因型的人相比，带有rs1793958 G等位基因的RRD患者的手术眼和同伴眼的视网膜脱离面积较小（P = 0.041），而IOP差异较小（P = 0.046）。总而言之，这项研究表明，COL2A1 rs1793958变体与散发RRD的风险降低相关，携带rs1793958 G等位基因的患者的RRD严重程度较低。
京公网安备 11010802027423号