Ecogenetics and Human Health Unit, Environmental Health Institute-ISAMB, Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal.
Institute for Scientific Research Bento Rocha Cabral, Calçada Bento da Rocha Cabral 14, 1250-012 Lisboa, Portugal.
Int J Mol Sci. 2023 Jul 23;24(14):11817. doi: 10.3390/ijms241411817.
The development of retinopathy of prematurity (ROP) may be influenced by anemia or a low fetal/adult hemoglobin ratio. We aimed to analyze the association between () (rs2424913), () (rs1801133), and () (rs7548692) polymorphisms, erythrocyte parameters during the first week of life, and ROP. In total, 396 infants (gestational age < 32 weeks or birth weight < 1500 g) were evaluated clinically and hematologically. Genotyping was performed using a MicroChip DNA on a platform employing iPlex MassARRAY. Multivariate regression was performed after determining risk factors for ROP using univariate regression. In the group of infants who developed ROP red blood cell distribution width (RDW), erythroblasts, and mean corpuscular volume (MCV) were higher, while mean hemoglobin and mean corpuscular hemoglobin concentration (MCHC) were lower; higher RDW was associated with (AA), (CC and CC + TT), (AA) + (CC), and (AA) + (allele C); (AA) + (CC) were associated with higher RDW, erythroblasts, MCV, and mean corpuscular hemoglobin (MCH); higher MCV and MCH were also associated with (AA) + (CC) + (allele C). We concluded that the polymorphisms studied may influence susceptibility to ROP by modulating erythropoiesis and gene expression of the fetal/adult hemoglobin ratio.
早产儿视网膜病变（ROP）的发展可能受贫血或胎儿/成人血红蛋白比值低的影响。我们旨在分析红细胞参数和 ()（rs2424913）、()（rs1801133）和 ()（rs7548692）多态性与 ROP 之间的关系。共评估了 396 名（胎龄<32 周或出生体重<1500 克）婴儿的临床和血液学情况。采用 iPlex MassARRAY 平台上的 MicroChip DNA 进行基因分型。使用单变量回归确定 ROP 的危险因素后，进行多变量回归。在发生 ROP 的婴儿组中，红细胞分布宽度（RDW）、网织红细胞和平均红细胞体积（MCV）较高，而平均血红蛋白和平均红细胞血红蛋白浓度（MCHC）较低；较高的 RDW 与 ()（AA）、()（CC 和 CC+TT）、()（AA）+()（CC）和 ()（AA）+（等位基因 C）相关；()（AA）+()（CC）与较高的 RDW、网织红细胞、MCV 和平均红细胞血红蛋白（MCH）相关；较高的 MCV 和 MCH 也与 ()（AA）+()（CC）+（等位基因 C）相关。我们得出结论，研究的多态性可能通过调节红细胞生成和胎儿/成人血红蛋白比值的基因表达来影响 ROP 的易感性。
