Human | NAA15 | 80155 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | Loss of retinal endothelial Tbdn-1 expression may be a contributing factor in retinal blood vessel proliferation in retinopathy of prematurity |
Human | VEGFA | 7422 | vascular endothelial growth factor A | Title:Genetic polymorphisms and retinopathy of prematurity|Association:Y|Conclusion:The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF. |
Human | SCGB1A1 | 7356 | secretoglobin, family 1A, member 1 (uteroglobin) | CC10 is detectable in the blood of newborn infants, and a production surge occurs at birth; surge is more pronounced in term infants and may confer them with superior extrauterine pulmonary protection compared with preterm infants |
Human | TNNT2 | 7139 | troponin T type 2 (cardiac) | There was a significant inverse correlation between cTnT (cardiac troponin T) and echocardiographic markers of myocardial function and stroke volume in preterm infants |
Human | TNF | 7124 | tumor necrosis factor | Title:Genetic polymorphisms and retinopathy of prematurity|Association:Not Found|Conclusion:The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF. |
Human | TLR4 | 7099 | toll-like receptor 4 | Two TLR4 polymorphisms heterozygosity is highly associated with symptomatic RSV disease in high-risk infants and supports a dual role for TLR4 SNPs in prematurity and increased susceptibility to RSV not revealed by analysis of either alone |
Human | THPO | 7066 | thrombopoietin | expression of TPO receptor on platelets until 1 month after birth cause a decreased TPO clearance and keep a high level of free TPO in blood, resulting in the subsequent thrombocytosis in preterm infants Increased TPO levels and the percentage of reticulated platelets indicate that thrombocytopoiesis is more active in prematurity |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | Title:Genetic polymorphisms and retinopathy of prematurity|Association:Not Found|Conclusion:The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF. |
Human | TEAD4 | 7004 | TEA domain family member 4 | Novel RTEF-1 transcripts are present within human ocular vascular endothelial cells and mouse neural retina during normal and retinopathy of prematurity development, and alternatively spliced products are produced under hyperoxic and hypoxic conditions |
Human | S100B | 6285 | S100 calcium binding protein B | determination of urinary S-100B concentrations might be helpful in term infants with severe asphyxia, while high urinary S-100B concentrations in preterm infants are to be attributed to immaturity |
Human | PRSS2 | 5645 | protease, serine, 2 (trypsin 2) | High levels of pulmonary trypsin-2 may be associated with the development of bronchopulmonary dysplasia in preterm infants |
Human | NPPB | 4879 | natriuretic peptide B | there was significant negative correlation between NTpBNP (natriuretic peptide precursor B) and left ventricular (LV) function in preterm infants |
Human | NDP | 4693 | Norrie disease (pseudoglioma) | Title:Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.|Association:Not Found|Conclusion:Of the six sequence alterations found, five were novel nucleotide changes: One in the 5' UTR region of exon 2, and four in the 3' UTR region of exon 3. The extent of NDP polymorphisms in this large, racially diverse group of infants is moderate. NDP polymorphisms may play a role in the pathogenesis of ROP, but do not appear to be a major causative factor. Title:A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.|Association:Y|Conclusion:The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups. de novo mutations in the 5' regulatory region in retinopathy of prematurity Data show a strong association between the AA genotype of the C597A Norrie disease gene polymorphism and progression of retinopathy of prematurity NDP polymorphisms may play a role in the pathogenesis of retinopathy of prematurity, but do not appear to be a major causative factor Title:Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.|Association:Not Found|Conclusion:Taking into account the above results, as well as those of other studies, it appears that the ND gene mutations can account for 3% of cases of advanced ROP. Although the ND gene is not frequently involved in advanced ROP, the present large-scale study further supports the hypothesis that genetic influences may play an important role in the development of severe ROP in some premature infants. |
Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | Here, we report a premature baby with prenatal onset diffuse multicystic encephalomalacia and cerebellar atrophy due to homozygous methylenetetrahydrofolate reductase mutation |
Human | MMP9 | 4318 | matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) | findings indicate differences in early matrix metalloproteinase 9 (MMP-9) bronchoalveolar lavage fluid levels between resolving respiratory distress syndrome and developing chronic lung disease of prematurity |
Human | MBL2 | 4153 | mannose-binding lectin (protein C) 2, soluble | Frequent variants of the MBL gene, leading to low MBL concentrations, are associated with the diagnosis of BPD in preterm infants The four haplotype combination groups may have a potential diagnostic use as opposite risk factors for lung disease of prematurity |
Human | CXCL10 | 3627 | chemokine (C-X-C motif) ligand 10 | Preterm infants have the ability to induce a robust chemokine and cytokine response during sepsis, and IP-10 is a sensitive early marker of infection |
Human | IL10 | 3586 | interleukin 10 | the risk of respiratory distress syndrome is significantly lower in preterm infants with an IL-10 -1082 GG/GA genotype than in those with an AA genotype [odds ratio (OR) = 0.48 |
Human | IL8 | 3576 | interleukin 8 | Azithromycin suppressed NF-kappaB activation and reduced synthesis of IL6/IL8 in tracheal cells from preterm ventilated infants |
Human | IL1RN | 3557 | interleukin 1 receptor antagonist | Increased levels of cord IL-1ra levels are associated with neonatal morbidity and adverse outcome in preterm infants |
Human | IGFBP2 | 3485 | insulin-like growth factor binding protein 2, 36kDa | The results provide further evidence that IGFBP-2 and IGF-II in breast milk are relevant factors for the early development of preterm infants |
Human | IGF1R | 3480 | insulin-like growth factor 1 receptor | The results do not support the association of the most prevalent insulin-like growth factor I receptor gene polymorphism and the risk of advanced retinopathy of prematurity |
Human | IGF1 | 3479 | insulin-like growth factor 1 (somatomedin C) | Results indicate that the degree of prematurity, low enteral protein intake, male gender, and slow weight gain are associated with a slower postnatal increase of IGF-I in preterm infants |
Human | HSD11B2 | 3291 | hydroxysteroid (11-beta) dehydrogenase 2 | In small preterm infants, reduced placental 11 beta-HSD2 function is asociated with low relative birth weight and severe fetal distress |
Human | SLC37A4 | 2542 | solute carrier family 37 (glucose-6-phosphate transporter), member 4 | A novel G6PT1 promoter polymorphism, 259C --> T was found; the - 259*T allele frequency was greater in term SIDS infants than in term control infants and preterm SIDS infants |