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伴有和不伴有增殖性玻璃体视网膜病变的视网膜脱离患者的单核苷酸多态性

SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY.

作者信息

Lumi Xhevat, Jelen Mateja M, Zupan Andrej, Boštjančič Emanuela, Ravnik-Glavač Metka, Hawlina Marko, Glavač Damjan

机构信息

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Slovenia; and.

出版信息

Retina. 2020 May;40(5):811-818. doi: 10.1097/IAE.0000000000002477.

Abstract

PURPOSE

To investigate differences in genotype distributions of single nucleotide polymorphisms within genes, encoding inflammatory mediators, among patients with rhegmatogenous retinal detachment (RRD) and patients with proliferative vitreoretinopathy (PVR).

METHODS

A genetic association study was performed on 191 Slovenian patients, divided into 2 groups: 113 RRD patients with PVR and 78 RRD patients without PVR. Genotype distributions were investigated within the following 13 single nucleotide polymorphisms: rs3760396 (CCL2), rs9990554 (FGF2), rs17561 (IL1A), rs2069763 (IL2), rs1800795 (IL6), rs1800871 (IL10), rs3008 (JAK3), rs2229094 (LTA), rs1042522 (TP53), rs7656613 (PDGFRA), rs7226855 (SMAD7), rs1800471 (TGFB1), and rs1800629 (TNF).

RESULTS

Differences in genotype distributions between patients with RRD with or without PVR were detected in rs1800795 (IL6) (P = 0.04), rs1800871 (in the vicinity of the IL10) (P = 0.034), and rs1800471 (TGFB1) (P = 0.032). After adjustment none of the 13 analyzed single nucleotide polymorphisms showed statistically significant associations in single nucleotide polymorphism genotype distributions between patients with RRD with and without PVR.

CONCLUSION

Further research is needed, particularly expanded multicentric population-based studies, to clarify the issue of genetic contribution to PVR from different genetic, clinical, and population-based aspects.

摘要

目的

研究孔源性视网膜脱离(RRD)患者与增殖性玻璃体视网膜病变(PVR)患者中,编码炎症介质的基因内单核苷酸多态性的基因型分布差异。

方法

对191名斯洛文尼亚患者进行了一项基因关联研究,这些患者分为两组:113名伴有PVR的RRD患者和78名不伴有PVR的RRD患者。研究了以下13个单核苷酸多态性的基因型分布:rs3760396(CCL2)、rs9990554(FGF2)、rs17561(IL1A)、rs2069763(IL2)、rs1800795(IL6)、rs1800871(IL10)、rs3008(JAK3)、rs2229094(LTA)、rs1042522(TP53)、rs7656613(PDGFRA)、rs7226855(SMAD7)、rs1800471(TGFB1)和rs1800629(TNF)。

结果

在rs1800795(IL6)(P = 0.04)、rs1800871(在IL10附近)(P = 0.034)和rs1800471(TGFB1)(P = 0.032)中,检测到伴有或不伴有PVR的RRD患者之间基因型分布存在差异。调整后,13个分析的单核苷酸多态性中,没有一个在伴有和不伴有PVR的RRD患者的单核苷酸多态性基因型分布中显示出统计学上的显著关联。

结论

需要进一步研究,特别是扩大基于多中心人群的研究,以从不同的遗传、临床和人群角度阐明基因对PVR的影响问题。

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