Association between genetic variations in carbamoyl-phosphate synthetase gene and persistent neonatal pulmonary hypertension

El-Khazragy⃰, Nashwa; Barbary, Mohamed El; Fouad, Hala E.E.; Abdel-Gawad, A. H.; Rabie, Dina

doi:10.1007/s00431-021-04053-8

Cited by 4 publications

(3 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Kaluarachchi et al ( 12 ) also reported 3 SNPs, rs41272673, rs4399666, and rs2287599, in the CPS1 gene, in US patients with PPHN with low tyrosine levels but high phenylalanine levels. El-Khazragy et al ( 15 ) found that the rs4399666 variant in the CPS1 gene was also significantly associated with PPHN in Egyptian infants. Byers et al ( 10 ) studied 32 SNPs in 12 candidate genes involving the pathophysiology of PPHN and found that rs4458044 in the corticotropin-releasing hormone receptor 1 ( CRHR1 ) gene was significantly associated with PPHN.…”

Section: Discussionmentioning

confidence: 99%

“…To date, little is conclusively known concerning genetic involvement with PPHN. Numerous studies have examined the genes that encode certain proteins related to proper lung development, such as vasodilators, vasoconstrictors, surfactants, vascular growth factors, and serotonin receptors, from which studies only a few genetic loci have been identified in patients with PPHN, including the CRHR1, CPS1, EDN1, NOTCH3, EPAS1, TTLL3, ITGAM, TBX4, and SMAD9 genes (9)(10)(11)(12)(13)(14)(15)(16). Few of these studies used a genome-wide approaches (13,14).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population

Nakwan¹,

Kunhapan²,

Chaiyasung³

et al. 2023

Transl Pediatr

View full text Add to dashboard Cite

Background There is known to be significant genetic involvement in persistent pulmonary hypertension of the newborn (PPHN), but to date there is not a clear understanding of this situation, and clarifying that involvement would be of considerable assistance in devising effective treatments for the disease. This case-control study was undertaken to search for genetic variants associated with PPHN in the Thai population using a genome-wide association study (GWAS). Methods A 659,184 single nucleotide polymorphisms from 387 participants (54 PPHN cases and 333 healthy participants) were genotyped across the human genome using an Illumina Asian Screening Array-24 v1.0 BeadChip Array. After quality control, we obtained 443,063 autosomal SNPs for the GWAS analysis. The FaST-LMM and R packages were used for all statistical analyses. Results For the case-control analysis, the genomic inflation factor (λ) was 1.016, rs149768622 T>C in the first intron of WWC2 gene showed the strongest association with a P value of 3.76E-08 and odds ratio (OR) of 13.24 (95% CI: 3.91–44.78). The variants at the LOC102723906 / LOC105377599 , CADM4 , GPM6A , CIT , RIMBP2 , LOC105374510 , LOC105375193 , PTPRN2 , CDK14 , and LCORL loci showed suggestive evidence of associations with PPHN (P<1E-05). Conclusions This GWAS found that rs149768622 T>C in the WWC2 gene was possibly associated with PPHN. However, replication and functional studies are needed to validate this association and further explore the role(s) of the WWC2 gene in PPHN.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population

Nakwan¹,

Kunhapan²,

Chaiyasung³

et al. 2023

Transl Pediatr

View full text Add to dashboard Cite

show abstract

“…Moreover, several maternal and fetal issues encode the origins of PPHN prenatally. Previous studies have demonstrated a link between genetic polymorphisms of the urea cycle enzyme and the onset of PPHN ( 23 ). In addition, transforming growth factor-β (TGF-β) and the endothelin system have been implicated in PPHN ( 24 – 26 ).…”

Section: Discussionmentioning

confidence: 99%

A nomogram prediction model for early death in patients with persistent pulmonary hypertension of the newborn

Lin

Mi²,

Zhang³

et al. 2022

Front. Cardiovasc. Med.

View full text Add to dashboard Cite

BackgroundPersistent pulmonary hypertension of the newborn (PPHN) is a major lethal disorder in neonates that leads to an extremely high mortality rate. Thus, the early identification of adverse outcomes in PPHN is critical for clinical practice. This research attempted to develop a nomogram prediction system for assessing the mortality of newborns with PPHN.MethodsTwo hundred and three newborns with PPHN diagnosed from January 2015 to March 2022 were involved in the study. The clinical features of these newborns and pregnancy details were compared between newborns in the survival and lethal groups. Univariable and multivariate analyses were established in sequence to demonstrate the essential risk factors. The nomogram prediction model was built.ResultsA total of 203 newborns were included in the analysis. 136 (67.0%) newborns represented the hospital survival group. Plasma pH value (OR = 0.606, p = 0.000, 95% CI 0.45715–0.80315), septicemia (OR = 3.544, p = 0.000, 95% CI 1.85160–6.78300), and abnormal pregnancy history (OR = 3.331, p = 0.008, 95% CI 1.37550–8.06680) were identified as independent risk factors for neonatal death in newborns associated with PPHN. Finally, the nomogram predictive model was established based on multivariate analysis results, indicating the efficacies of prediction and calibration.ConclusionThis study generated an applicable risk score formula using the plasma pH value, septicemia, and abnormal pregnancy history to recognize neonatal death in newborns with PPHN, presenting a sufficient predictive value and calibration.

show abstract

Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases

Zhang

Zou²,

Lü³

et al. 2023

Bioorganic Chemistry

View full text Add to dashboard Cite

Association between genetic variations in carbamoyl-phosphate synthetase gene and persistent neonatal pulmonary hypertension

Cited by 4 publications

References 25 publications

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population

Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population

A nomogram prediction model for early death in patients with persistent pulmonary hypertension of the newborn

Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases

Contact Info

Product

Resources

About