Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis
Abstract Despite advances in neonatal and ophthalmological care, retinopathy of prematurity (ROP) continues to be a leading cause of childhood blindness worldwide. Investigating gene variants associated with vascular responses in ROP may provide valuable insights into its pathogenesis and identify r...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-01-01
|
| Series: | Scientific Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1038/s41598-024-83305-7 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841559639050682368 |
|---|---|
| author | Aneta Choręziak-Michalak Dawid Szpecht Tomasz Woźniak Anna Chmielarz-Czarnocińska Patrycja Gazińska Anna Gotz-Więckowska Ewa Strauss |
| author_facet | Aneta Choręziak-Michalak Dawid Szpecht Tomasz Woźniak Anna Chmielarz-Czarnocińska Patrycja Gazińska Anna Gotz-Więckowska Ewa Strauss |
| author_sort | Aneta Choręziak-Michalak |
| collection | DOAJ |
| description | Abstract Despite advances in neonatal and ophthalmological care, retinopathy of prematurity (ROP) continues to be a leading cause of childhood blindness worldwide. Investigating gene variants associated with vascular responses in ROP may provide valuable insights into its pathogenesis and identify risk or protective factors. Nitric oxide (NO) and endothelin-1 (ET-1) play roles in vascular regulation, influencing processes relevant to ROP development. Functional variants of genes encoding endothelial NO sythetase (NOS3 rs1799983, rs2070744), endothelin-1 (EDN1 rs5370), and endothelin receptor A (EDNRA rs5335) may influence ROP development or progression. The results of our study support the role of the rs2070744 variant in ROP. We identified the protective effect of the rs2070744C allele against the development of ROP requiring treatment, also after adjusting for covariates. Meta-analysis including 298 patients and 397 controls confirmed this protective role. The rs2070744CC homozygous genotype exhibited an odds ratio (OR) of 0.42 (adjusted P = 0.036). Additional meta-analysis results for NOS3 rs1799983 are presented, suggesting potential risk in a recessive model. No associations were found between EDN1, EDNRA variants, and ROP. Exploring genetic predispositions in ROP, including vascular regulation genes, can lead to personalized prevention and treatment approaches. Our results need to be replicated in a larger sample of premature infants. |
| format | Article |
| id | doaj-art-138f450cb63c4a94a8c9084c03340ee5 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-138f450cb63c4a94a8c9084c03340ee52025-01-05T12:19:49ZengNature PortfolioScientific Reports2045-23222025-01-0115111310.1038/s41598-024-83305-7Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysisAneta Choręziak-Michalak0Dawid Szpecht1Tomasz Woźniak2Anna Chmielarz-Czarnocińska3Patrycja Gazińska4Anna Gotz-Więckowska5Ewa Strauss6Chair and Department of Ophthalmology, Poznan University of Medical SciencesChair and Department of Neonatology, Poznan University of Medical SciencesInstitute of Human Genetics, Polish Academy of SciencesChair and Department of Ophthalmology, Poznan University of Medical SciencesResearch Oncology, Division of Cancer Studies, King’s College LondonChair and Department of Ophthalmology, Poznan University of Medical SciencesInstitute of Human Genetics, Polish Academy of SciencesAbstract Despite advances in neonatal and ophthalmological care, retinopathy of prematurity (ROP) continues to be a leading cause of childhood blindness worldwide. Investigating gene variants associated with vascular responses in ROP may provide valuable insights into its pathogenesis and identify risk or protective factors. Nitric oxide (NO) and endothelin-1 (ET-1) play roles in vascular regulation, influencing processes relevant to ROP development. Functional variants of genes encoding endothelial NO sythetase (NOS3 rs1799983, rs2070744), endothelin-1 (EDN1 rs5370), and endothelin receptor A (EDNRA rs5335) may influence ROP development or progression. The results of our study support the role of the rs2070744 variant in ROP. We identified the protective effect of the rs2070744C allele against the development of ROP requiring treatment, also after adjusting for covariates. Meta-analysis including 298 patients and 397 controls confirmed this protective role. The rs2070744CC homozygous genotype exhibited an odds ratio (OR) of 0.42 (adjusted P = 0.036). Additional meta-analysis results for NOS3 rs1799983 are presented, suggesting potential risk in a recessive model. No associations were found between EDN1, EDNRA variants, and ROP. Exploring genetic predispositions in ROP, including vascular regulation genes, can lead to personalized prevention and treatment approaches. Our results need to be replicated in a larger sample of premature infants.https://doi.org/10.1038/s41598-024-83305-7Meta-analysisNitric oxide synthaseNOS3Retinopathy of prematurityROPNucleotide variants |
| spellingShingle | Aneta Choręziak-Michalak Dawid Szpecht Tomasz Woźniak Anna Chmielarz-Czarnocińska Patrycja Gazińska Anna Gotz-Więckowska Ewa Strauss Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis Scientific Reports Meta-analysis Nitric oxide synthase NOS3 Retinopathy of prematurity ROP Nucleotide variants |
| title | Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis |
| title_full | Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis |
| title_fullStr | Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis |
| title_full_unstemmed | Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis |
| title_short | Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case–control study and meta-analysis |
| title_sort | association of endothelial nitric oxide synthase nos3 rs2070744 variant with advanced retinopathy of prematurity a case control study and meta analysis |
| topic | Meta-analysis Nitric oxide synthase NOS3 Retinopathy of prematurity ROP Nucleotide variants |
| url | https://doi.org/10.1038/s41598-024-83305-7 |
| work_keys_str_mv | AT anetachoreziakmichalak associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis AT dawidszpecht associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis AT tomaszwozniak associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis AT annachmielarzczarnocinska associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis AT patrycjagazinska associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis AT annagotzwieckowska associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis AT ewastrauss associationofendothelialnitricoxidesynthasenos3rs2070744variantwithadvancedretinopathyofprematurityacasecontrolstudyandmetaanalysis |