Fevereiro-Martins Mariza, Santos Ana Carolina, Marques-Neves Carlos, Guimarães Hercília, Bicho Manuel
Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal.
Grupo Ecogenética e Saúde Humana, Instituto de Saúde Ambiental-ISAMB, Laboratório Associado Terra, Faculdade de Medicina, Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal.
Int J Mol Sci. 2025 Jan 22;26(3):898. doi: 10.3390/ijms26030898.
Retinal neurodevelopment, vascularization, homeostasis, and stress response are influenced by factors such as (), (), (), and (). As retinopathy of prematurity (ROP) is a neurovascular retinal disease, this study analyzed the contributions of (rs6330), (rs7934165), (rs10770141), and (rs507392) genetic functional polymorphisms to the modulation of hematological and biochemical parameters of the first week of life and their association with ROP development. A multicenter cohort of 396 preterm infants (gestational age < 32 weeks or birth weight < 1500 g) was genotyped using MicroChip DNA and iPlex MassARRAY platform. Multivariate regression followed univariate assessment of ROP risk factors. (GG) genotype was associated with a higher ROP risk (OR = 1.79), which increased further (OR = 2.38) when epistatic interactions with (allele C) and (allele G) were present. Significant circulating biomarker differences, including bilirubin, erythrocytes, monocytes, neutrophils, lymphocytes, and platelet markers, were found between ROP and non-ROP groups, with variations depending on the polymorphism. These findings suggest that (rs6330) and its interactions with related genes contribute to ROP risk, providing valuable insights into the genetic and biological mechanisms underlying the disease and identifying potential predictive biomarkers.
视网膜神经发育、血管生成、体内平衡和应激反应受诸如（）、（）、（）和（）等因素影响。由于早产儿视网膜病变（ROP）是一种神经血管性视网膜疾病，本研究分析了（rs6330）、（rs7934165）、（rs10770141）和（rs507392）基因功能多态性对出生后第一周血液学和生化参数调节的贡献及其与ROP发生发展的关联。使用微芯片DNA和iPlex MassARRAY平台对396名早产儿（胎龄<32周或出生体重<1500 g）的多中心队列进行基因分型。在对ROP危险因素进行单变量评估之后进行多变量回归分析。（GG）基因型与较高的ROP风险相关（比值比=1.79），当与（等位基因C）和（等位基因G）存在上位性相互作用时，该风险进一步增加（比值比=2.38）。在ROP组和非ROP组之间发现了显著的循环生物标志物差异，包括胆红素、红细胞、单核细胞、中性粒细胞、淋巴细胞和血小板标志物，差异因多态性而异。这些发现表明，（rs6330）及其与相关基因的相互作用会导致ROP风险，为该疾病的遗传和生物学机制提供了有价值的见解，并确定了潜在的预测生物标志物。
