Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system
Abstract Retinopathy of prematurity (ROP) remains a leading cause of childhood blindness globally. The clinical progression of ROP exhibits notable similarities to infantile hemangioma (IH), suggesting shared risk factors and underlying mechanisms. This study aimed to investigate the influence of va...
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Nature Portfolio
2025-04-01
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| author | Anna Chmielarz-Czarnocińska Anna Durska Bartosz Skulimowski Alicja Sobaniec Anna Gotz-Więckowska Ewa Strauss |
| author_facet | Anna Chmielarz-Czarnocińska Anna Durska Bartosz Skulimowski Alicja Sobaniec Anna Gotz-Więckowska Ewa Strauss |
| author_sort | Anna Chmielarz-Czarnocińska |
| collection | DOAJ |
| description | Abstract Retinopathy of prematurity (ROP) remains a leading cause of childhood blindness globally. The clinical progression of ROP exhibits notable similarities to infantile hemangioma (IH), suggesting shared risk factors and underlying mechanisms. This study aimed to investigate the influence of variants in genes postulated for IH—specifically, anthrax toxin receptor 1 (ANTXR1), beta-2-adrenergic receptor (ADRB2), Fms-related tyrosine kinase 4 receptor (FLT4), kinase insert domain receptor (KDR), and insulin-like growth factor 1 receptor (IGF1R)—on the development and severity of ROP. In our analysis of 210 infants born at a gestational age of less than 33 weeks, we identified the ADRB2 rs1042714G variant allele as a significant risk factor for ROP, particularly its proliferative form. This risk was exacerbated by interactions with factors associated with neonatal respiratory failure, such as surfactant therapy, postnatal resuscitation, and mechanical ventilation, as well as the angiotensin II type 1 receptor variant (AGTR1 rs5186A > C), previously linked to ROP risk in meta-analyses. Moreover, STRING protein-protein interaction analysis revealed that the ADRB2 protein interacts directly with a component of the vascular endothelial growth factor signaling pathway. These findings highlight potential pharmacological targets for ROP interventions, emphasizing the importance of understanding genetic contributions to this complex condition. |
| format | Article |
| id | doaj-art-2048a6217a1145009bc65f89149e70d2 |
| institution | DOAJ |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-04-01 |
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| spelling | doaj-art-2048a6217a1145009bc65f89149e70d22025-08-20T03:07:40ZengNature PortfolioScientific Reports2045-23222025-04-0115111110.1038/s41598-025-95055-1Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone systemAnna Chmielarz-Czarnocińska0Anna Durska1Bartosz Skulimowski2Alicja Sobaniec3Anna Gotz-Więckowska4Ewa Strauss5Chair and Department of Ophthalmology, Poznan University of Medical SciencesInstitute of Human Genetics of the Polish Academy of SciencesChair and Department of Ophthalmology, Poznan University of Medical SciencesChair and Department of Neonatology, Poznan University of Medical SciencesChair and Department of Ophthalmology, Poznan University of Medical SciencesInstitute of Human Genetics of the Polish Academy of SciencesAbstract Retinopathy of prematurity (ROP) remains a leading cause of childhood blindness globally. The clinical progression of ROP exhibits notable similarities to infantile hemangioma (IH), suggesting shared risk factors and underlying mechanisms. This study aimed to investigate the influence of variants in genes postulated for IH—specifically, anthrax toxin receptor 1 (ANTXR1), beta-2-adrenergic receptor (ADRB2), Fms-related tyrosine kinase 4 receptor (FLT4), kinase insert domain receptor (KDR), and insulin-like growth factor 1 receptor (IGF1R)—on the development and severity of ROP. In our analysis of 210 infants born at a gestational age of less than 33 weeks, we identified the ADRB2 rs1042714G variant allele as a significant risk factor for ROP, particularly its proliferative form. This risk was exacerbated by interactions with factors associated with neonatal respiratory failure, such as surfactant therapy, postnatal resuscitation, and mechanical ventilation, as well as the angiotensin II type 1 receptor variant (AGTR1 rs5186A > C), previously linked to ROP risk in meta-analyses. Moreover, STRING protein-protein interaction analysis revealed that the ADRB2 protein interacts directly with a component of the vascular endothelial growth factor signaling pathway. These findings highlight potential pharmacological targets for ROP interventions, emphasizing the importance of understanding genetic contributions to this complex condition.https://doi.org/10.1038/s41598-025-95055-1Retinopathy of prematurityROPNucleotide variantsBeta-2-adrenergic receptorADRB2AGTR1 |
| spellingShingle | Anna Chmielarz-Czarnocińska Anna Durska Bartosz Skulimowski Alicja Sobaniec Anna Gotz-Więckowska Ewa Strauss Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system Scientific Reports Retinopathy of prematurity ROP Nucleotide variants Beta-2-adrenergic receptor ADRB2 AGTR1 |
| title | Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system |
| title_full | Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system |
| title_fullStr | Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system |
| title_full_unstemmed | Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system |
| title_short | Association of the ADRB2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin-angiotensin-aldosterone system |
| title_sort | association of the adrb2 rs1042714 variant with retinopathy of prematurity highlights the importance of the renin angiotensin aldosterone system |
| topic | Retinopathy of prematurity ROP Nucleotide variants Beta-2-adrenergic receptor ADRB2 AGTR1 |
| url | https://doi.org/10.1038/s41598-025-95055-1 |
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