The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorphisms

İlgüy, Serdar; Çilingir, Oğuz; Bilgeç, Mustafa Değer; Özalp, Onur; Gökalp, Ebru Erzurumluoğlu; Arslan, Serap; Tekin, Neslihan; Aydemir, Özge; Erol, Nazmiye; Çolak, Ertuğrul; Gürsoy, Hüseyin

doi:10.1080/13816810.2021.1961279

Cited by 10 publications

(8 citation statements)

References 33 publications

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“…To date, no GWAS has been published for ROP; case control and whole exome candidate gene approaches have reported significant risk associations between single nucleotide polymorphisms (SNP) in brain-derived neurotrophic factor ( BDNF ; rs7934165 and rs2049046), thrombospondin type-1 domain-containing protein 4 ( THSD4 ), TNF -308G/A polymorphism and angiotensin 1 converting enzyme insertion deletion (ACE ID) polymorphism 8 , 16 – 18 (Supplementary Table 1 ). By contrast, recent candidate work demonstrated significant protective associations between the BDNF SNP rs7929344 and ROP and severe ROP risk associations between SNPs within VEGF A, NOS3, and EPAS1 19 . While no SNP has been shown to reach genome-wide significance, meta-analysis has substantiated some associations 17 while also beginning to identify pathobiology underlying observed differences in ROP risk relative to race; an example being recent work demonstrating association of the VEGFA + 405 G > C polymorphism association with ROP risk in European Ancestry populations 20 .…”

Section: Introductionmentioning

confidence: 74%

Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Li,

Owen,

Taylor

et al. 2024

Commun Biol

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We conducted a genome-wide association study (GWAS) in a multiethnic cohort of 920 at-risk infants for retinopathy of prematurity (ROP), a major cause of childhood blindness, identifying 1 locus at genome-wide significance level (p < 5×10-8) and 9 with significance of p < 5×10-6 for ROP ≥ stage 3. The most significant locus, rs2058019, reached genome-wide significance within the full multiethnic cohort (p = 4.96×10-9); Hispanic and European Ancestry infants driving the association. The lead single nucleotide polymorphism (SNP) falls in an intronic region within the Glioma-associated oncogene family zinc finger 3 (GLI3) gene. Relevance for GLI3 and other top-associated genes to human ocular disease was substantiated through in-silico extension analyses, genetic risk score analysis and expression profiling in human donor eye tissues. Thus, we identify a novel locus at GLI3 with relevance to retinal biology, supporting genetic susceptibilities for ROP risk with possible variability by race and ethnicity.

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Section: Introductionmentioning

confidence: 74%

Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Li,

Owen,

Taylor

et al. 2024

Commun Biol

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“…Case control and whole exome candidate approaches have identi ed signi cant risk associations between single nucleotide polymorphisms (SNP) in brain-derived neurotrophic factor (BDNF; rs7934165 and rs2049046), thrombospondin type-1 domain-containing protein 4 (THSD4), TNF -308G/A polymorphism and angiotensin 1 converting enzyme insertion deletion (ACE ID) polymorphism [16][17][18][19] (Supplementary Table 1). By contrast, recent candidate work demonstrated signi cant protective associations between the BDNF SNP rs7929344 and ROP and severe ROP risk associations between SNPs within VEGFA, NOS3 and EPAS1 20 . While no SNP has been shown to reach genome-wide signi cance, meta-analysis has substantiated some associations 18 while also beginning to identify pathobiology underlying observed differences in ROP risk relative to race; an example being recent work demonstrating association of the VEGFA+405G>C polymorphism association with ROP risk in Caucasian populations 21 .…”

Section: Introductionmentioning

confidence: 78%

Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort

Rotter¹,

Owen

et al. 2023

Preprint

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We conducted a genome-wide association study (GWAS) in a multiethnic cohort of 920 at-risk infants for retinopathy of prematurity (ROP), a major cause of childhood blindness, identifying 2 loci at genome-wide significance level (p<5×10-8) and 7 at suggestive significance (p<5×10-6) for ROP ≥ stage 3. The most significant locus, rs2058019, reached genome-wide significance within the full multiethnic cohort (p= 4.96×10-9); Hispanic and Caucasian infants driving the association. The lead single nucleotide polymorphism (SNP) falls in an intronic region within the Glioma-associated oncogene family zinc finger 3 (GLI3) gene. Relevance for GLI3 and other top-associated genes to human ocular disease was substantiated through in-silico extension analyses, genetic risk score analysis and expression profiling in human donor eye tissues. Thus, we report the largest ROP GWAS to date, identifying a novel locus at GLI3 with relevance to retinal biology supporting genetic susceptibilities for ROP risk with possible variability by race and ethnicity.

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“…In a Turkish population of 148 newborns with moderate and severe ROP, it was observed that the overload of mutant alleles in VEGFA rs3025039 and rs2010963 increased ROP severity and treatment requirements ( p < 0.001, p < 0.001) [ 107 ].…”

Section: Resultsmentioning

confidence: 99%

Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature

et al. 2023

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(1) Background: Vascular endothelial growth factor (VEGF) is essential in vasculo- and angiogenesis due to its role in endothelial cell proliferation and migration. As a vascular proliferative factor, VEGF is one of the hallmarks of cancer and, in adult populations, the relationship between genetic polymorphism and neoplasm was widely investigated. For the neonatal population, only a few studies attempted to uncover the link between the genetic polymorphism of VEGF and neonatal pathology, especially related to late-onset complications. Our objective is to evaluate the literature surrounding VEGF genetic polymorphisms and the morbidity of the neonatal period. (2) Methods: A systematic search was initially conducted in December 2022. The PubMed platform was used to explore MEDLINE (1946 to 2022) and PubMed Central (2000 to 2022) by applying the search string ((VEGF polymorphism*) and newborn*). (3) Results: The PubMed search yielded 62 documents. A narrative synthesis of the findings was undertaken considering our predetermined subheadings (infants with low birth weight or preterm birth, heart pathologies, lung diseases, eye conditions, cerebral pathologies, and digestive pathologies). (4) Conclusion: The VEGF polymorphisms seem to be associated with neonatal pathology. The involvement of VEGF and VEGF polymorphism has been demonstrated for retinopathy of prematurity.

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The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorphisms

Cited by 10 publications

References 33 publications

Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Genome-wide association identifies novel ROP risk loci in a multiethnic cohort

Genome-wide association identifies novel ROP risk loci in a multi-ethnic cohort

Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature

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