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Inflammation-associated gene polymorphisms and clinical variables in the incidence and progression of retinopathy of prematurity
Central European Journal of Immunology ( IF 1.3 ) Pub Date : 2020-04-27 , DOI: 10.5114/ceji.2020.94789 Dawid Szpecht 1 , Anna Chmielarz-CzarnociŃska 2 , Janusz Gadzinowski 1 , Agnieszka Seremak-Mrozikiewicz 3 , GraŻyna KurzawiŃska 3 , Marta Szymankiewicz 1 , Krzysztof Drews 3 , Anna Gotz-WiĘckowska 2
Central European Journal of Immunology ( IF 1.3 ) Pub Date : 2020-04-27 , DOI: 10.5114/ceji.2020.94789 Dawid Szpecht 1 , Anna Chmielarz-CzarnociŃska 2 , Janusz Gadzinowski 1 , Agnieszka Seremak-Mrozikiewicz 3 , GraŻyna KurzawiŃska 3 , Marta Szymankiewicz 1 , Krzysztof Drews 3 , Anna Gotz-WiĘckowska 2
Affiliation
Introduction
A growing body of evidence shows that genetics plays a vital role in the development and progression of retinopathy of prematurity (ROP). Perinatal inflammation is also considered an important risk factor of ROP. Therefore, understanding the interplay of genetics and susceptibility to inflammation might shed light on the pathogenesis of ROP and make its screening and treatment more effective in preventing visual impairment in premature infants.
Material and methods
This study investigated the correlation of inflammation-associated gene polymorphisms: IL-1b +3953 C>T, IL-1RN VNTR 86 bp, IL-6 -174 G>C, IL-6 -596 G>A, and TNF-a -308 G>A as well as demographic and clinical characteristics of ROP in preterm infants (n = 90).
Results
Our results demonstrate that IL-1RN rs2234663 1/1 genotype prevails in infants with ROP that regresses without intervention, when compared to those requiring laser photocoagulation/anti-VEGF injection (p = 0.031). Genotype 2/2 of IL-1RN occurs more frequently in children with severe ROP (28.6%) than in the group in which ROP regressed spontaneously (4.0%). The analysis revealed also differences between the genotypes of IL-1RN in ROP patients with intrauterine infection and in patients who had ROP without intrauterine infection; however, this was not statistically significant. Other studied polymorphisms were not associated with ROP development or its progression.
Conclusions
These results suggest that different genotypes of IL-1RN might have an impact on the course of ROP. Genotype 2/2 of IL-1RN gene may predispose to ROP progression.
中文翻译：
炎症相关基因多态性和早产儿视网膜病变发生和进展中的临床变量
简介
越来越多的证据表明，遗传学在早产儿视网膜病变 (ROP) 的发展和进展中起着至关重要的作用。围产期炎症也被认为是ROP的重要危险因素。因此，了解遗传和炎症易感性的相互作用可能有助于阐明 ROP 的发病机制，并使其筛查和治疗在预防早产儿视力障碍方面更有效。
材料与方法
本研究调查了炎症相关基因多态性的相关性：IL-1b +3953 C>T、IL-1RN VNTR 86 bp、IL-6 -174 G>C、IL-6 -596 G>A，以及TNF-a -308 G>A 以及早产儿 ROP 的人口统计学和临床特征（n = 90）。
结果
我们的结果表明，与需要激光光凝/抗 VEGF 注射的婴儿相比，IL-1RN rs2234663 1/1 基因型在无需干预即可消退的 ROP 婴儿中占主导地位 (p = 0.031)。IL-1RN 基因型 2/2 在重度 ROP 患儿中的发生率（28.6%）高于 ROP 自发消退组（4.0%）。分析还揭示了宫内感染的 ROP 患者和无宫内感染的 ROP 患者的 IL-1RN 基因型之间的差异。然而，这在统计上并不显着。其他研究的多态性与 ROP 发展或其进展无关。
结论
这些结果表明IL-1RN的不同基因型可能对ROP的进程有影响。IL-1RN 基因的基因型 2/2 可能易患 ROP 进展。
更新日期：2020-04-27
A growing body of evidence shows that genetics plays a vital role in the development and progression of retinopathy of prematurity (ROP). Perinatal inflammation is also considered an important risk factor of ROP. Therefore, understanding the interplay of genetics and susceptibility to inflammation might shed light on the pathogenesis of ROP and make its screening and treatment more effective in preventing visual impairment in premature infants.
Material and methods
This study investigated the correlation of inflammation-associated gene polymorphisms: IL-1b +3953 C>T, IL-1RN VNTR 86 bp, IL-6 -174 G>C, IL-6 -596 G>A, and TNF-a -308 G>A as well as demographic and clinical characteristics of ROP in preterm infants (n = 90).
Results
Our results demonstrate that IL-1RN rs2234663 1/1 genotype prevails in infants with ROP that regresses without intervention, when compared to those requiring laser photocoagulation/anti-VEGF injection (p = 0.031). Genotype 2/2 of IL-1RN occurs more frequently in children with severe ROP (28.6%) than in the group in which ROP regressed spontaneously (4.0%). The analysis revealed also differences between the genotypes of IL-1RN in ROP patients with intrauterine infection and in patients who had ROP without intrauterine infection; however, this was not statistically significant. Other studied polymorphisms were not associated with ROP development or its progression.
Conclusions
These results suggest that different genotypes of IL-1RN might have an impact on the course of ROP. Genotype 2/2 of IL-1RN gene may predispose to ROP progression.
中文翻译：
炎症相关基因多态性和早产儿视网膜病变发生和进展中的临床变量
简介
越来越多的证据表明，遗传学在早产儿视网膜病变 (ROP) 的发展和进展中起着至关重要的作用。围产期炎症也被认为是ROP的重要危险因素。因此，了解遗传和炎症易感性的相互作用可能有助于阐明 ROP 的发病机制，并使其筛查和治疗在预防早产儿视力障碍方面更有效。
材料与方法
本研究调查了炎症相关基因多态性的相关性：IL-1b +3953 C>T、IL-1RN VNTR 86 bp、IL-6 -174 G>C、IL-6 -596 G>A，以及TNF-a -308 G>A 以及早产儿 ROP 的人口统计学和临床特征（n = 90）。
结果
我们的结果表明，与需要激光光凝/抗 VEGF 注射的婴儿相比，IL-1RN rs2234663 1/1 基因型在无需干预即可消退的 ROP 婴儿中占主导地位 (p = 0.031)。IL-1RN 基因型 2/2 在重度 ROP 患儿中的发生率（28.6%）高于 ROP 自发消退组（4.0%）。分析还揭示了宫内感染的 ROP 患者和无宫内感染的 ROP 患者的 IL-1RN 基因型之间的差异。然而，这在统计上并不显着。其他研究的多态性与 ROP 发展或其进展无关。
结论
这些结果表明IL-1RN的不同基因型可能对ROP的进程有影响。IL-1RN 基因的基因型 2/2 可能易患 ROP 进展。
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