Genetic association of single nucleotide polymorphisms of <i>FZD4</i> and <i>BDNF</i> genes with retinopathy of prematurity

Lasabová, Zora; Stanclova, Andrea; Grendár, Marian; Mikolajcikova, Silvia; Čalkovská, Andrea; Lenhartova, N; Žiak, Peter; Matasová, Katarína; Čaprnda, Martin; Kružliak, Peter; Zibolen, Mirko

doi:10.1080/13816810.2018.1432064

Cited by 7 publications

(5 citation statements)

References 29 publications

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“…We and others have found lower levels of circulating BDNF in blood samples from infants with ROP compared to infants without ROP [ 21 – 23 ]. In addition, although genetic variants in the BDNF gene have been associated with severe ROP [ 24 , 25 ], data are inconclusive [ 26 ].…”

Section: Introductionmentioning

confidence: 99%

Decreased Platelet Counts and Serum Levels of VEGF-A, PDGF-BB, and BDNF in Extremely Preterm Infants Developing Severe ROP

et al. 2021

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Introduction: Thrombocytopenia has been identified as an independent risk factor for retinopathy of prematurity (ROP), although underlying mechanisms are unknown. In this study, the association of platelet count and serum platelet-derived factors with ROP was investigated. Methods: Data for 78 infants born at gestational age (GA) <28 weeks were included. Infants were classified as having no/mild ROP or severe ROP. Serum levels of vascular endothelial growth factor A, platelet-derived growth factor BB, and brain-derived neurotrophic factor were measured in serum samples collected from birth until postmenstrual age (PMA) 40 weeks. Platelet counts were obtained from samples taken for clinical indication. Results: Postnatal platelet counts and serum concentrations of the 3 growth factors followed the same postnatal pattern, with lower levels in infants developing severe ROP at PMA 32 and 36 weeks (p < 0.05–0.001). With adjustment for GA, low platelet counts and low serum concentrations of all 3 factors at PMA 32 weeks were significantly associated with severe ROP. Serum concentrations of all 3 factors also strongly correlated with platelet count (p < 0.001). Conclusion: In this article, we show that ROP, platelet counts, and specific pro-angiogenic factors correlate. These data suggest that platelet-released factors might be involved in the regulation of retinal and systemic angiogenesis after extremely preterm birth. Further investigations are needed.

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Section: Introductionmentioning

confidence: 99%

Decreased Platelet Counts and Serum Levels of VEGF-A, PDGF-BB, and BDNF in Extremely Preterm Infants Developing Severe ROP

et al. 2021

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“…This would detect preterm infants at risk of developing severe ROP that needs treatment without exposing the rest to unnecessary screening. Screening guidelines should differ between countries especially between high and low-income countries since ROP depends on neonatal care and oxygen supplementation and, to a lesser extent, on genetic variation (Lasabova et al 2018). Therefore, there is no one-fit-all screening program (Gilbert et al 2005;Gaynon 2006;Shastry 2010;Fierson et al 2013;Wilson et al 2013).…”

Section: Introductionmentioning

confidence: 99%

“…Screening guidelines should differ between countries especially between high and low‐income countries since ROP depends on neonatal care and oxygen supplementation and, to a lesser extent, on genetic variation (Lasabova et al. 2018). Therefore, there is no one‐fit‐all screening program (Gilbert et al.…”

Section: Introductionmentioning

confidence: 99%

Evaluation and modification of French screening guidelines for retinopathy of prematurity

Barjol

Lux

Dureau

et al. 2022

Acta Ophthalmologica

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Purpose: To evaluate the current French screening guidelines for retinopathy of prematurity (ROP) and to suggest modifications to it. Methods: In this multicentric retrospective, noncomparative, interventional case series we included infants with a gestational age (GA) ≤32 weeks who were screened for ROP by fundus examination between 2011 and 2018. Main Outcome Measures were the presence of ROP and the need for treatment. Results: A total of 2246 children with a mean GA of 28.9 AE 2.0 weeks and mean birth weight (BW) of 1141.1 AE 332.0 g were screened. Retinopathy of prematurity (ROP) was found in 683 infants (30.4%), of whom 145 (6.5%) had type 2 ROP and 58 (2.6%) had type 1 ROP. Mean GA of infants with type 1 ROP needing treatment was 25.9 + 1.5 weeks (range: 23.6-30) and mean BW was 774.1 AE 173.7 g (range: 540-1400). Both GA and BW had an impact on the development of type 1 and 2 ROP. None of the infants needing treatment had a GA of 31 weeks or more. None of the children needed treatment before 33 weeks of postmenstrual age (PMA) or 6 weeks of postnatal age (PNA). Conclusion: It seems possible to decrease the screening of premature infants to ≤31 weeks of GA and to start screening at 31 weeks PMA for infants having a GA < 26 weeks and at 6 weeks PNA for more mature children.

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“…Validation by Sanger sequencing. Selected mutations identified by AmpliSeq for Illumina HotSpot Panel v2 that showed a frequency from 5% upwards, were validated by Sanger sequencing according to a standard protocol in our laboratory [19] S1). The quality of all runs was high, in the third run all amplicons had an average coverage greater than 1,000 in runs 1 and 2 there was only one amplicon with less coverage than 1,000 (Supp Supplementary Table S1).…”

Section: Methodsmentioning

confidence: 99%

Detection of therapeutically relevant and concomitant rare somatic variants in colorectal cancer

Mikolajcik¹,

Lasabová²,

Loderer³

et al. 2021

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In colorectal cancer, clinically relevant biomarkers are known for genome-guided therapy that can be detected by both first and next generation methods. The aim of our work was to introduce a robust NGS assay that will be able to detect, in addition to standard predictive single nucleotidebased biomarkers, even rare and concomitant clinically relevant variants. Another aim was to identify truncating mutations in APC and pathogenic variants in TP53 to divide patients into potentially prognostic groups. A multigene panel with hotspots in 50 cancer critical genes was used.Finally, 86 patients diagnosed with primary or metastatic colorectal cancer were enrolled. In total, there were identified 163 pathogenic variants, among them in the genes most recurrent mutated in CRC such as TP53 (49%), the RAS family genes KRAS and NRAS (47%), APC (43%), and PIK3CA (15%). In 30 samples, two driver mutations were present in one sample, 11 patients were without any mutations covered by this panel. In one patient, a novel variant in BRAF p.D594E was found, not previously seen in CRC, and was concomitant with KRAS p.G12A. In KRAS, a potentially sensitive mutation to anti-EGFR therapy p.A59T was found along with the PIK3CA missense variant p.E545K. It was possible to divide patients into groups based on the occurrence of truncating APC variant alone or concomitant with TP53 or KRAS. Our results demonstrate the potential of small multigene panels that can be used in diagnostics for the detection of rare therapeutically relevant variants. Moreover, the division of patients into groups based on the presence of APC and TP53 mutations enables this panel to be used in retrospective studies on the effectiveness of treatment with anti-EGFR inhibitors.

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Genetic association of single nucleotide polymorphisms of FZD4 and BDNF genes with retinopathy of prematurity

Abstract: We suggest that rs61749246:C˃A of the FZD4 gene is likely associated with the development of ROP. It is necessary to confirm this suggestion in larger studies.

Cited by 7 publications

References 29 publications

Decreased Platelet Counts and Serum Levels of VEGF-A, PDGF-BB, and BDNF in Extremely Preterm Infants Developing Severe ROP

Decreased Platelet Counts and Serum Levels of VEGF-A, PDGF-BB, and BDNF in Extremely Preterm Infants Developing Severe ROP

Evaluation and modification of French screening guidelines for retinopathy of prematurity

Detection of therapeutically relevant and concomitant rare somatic variants in colorectal cancer

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