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

Conclusion: We concluded that mutant CPS-I A/C rs4399666 minor variant especially the homozygous CC genotype is frequently distributed among the PPHN group. This demonstrates that the presence of mutant CPS-I rs4399666 does not necessarily predispose to the development of PPHN in neonates, but nonetheless, if the C allele is inherited in the homozygous CC genotype, it is associated with a higher risk of PPHN.What is Known:•Prior studies found that polymorphisms in urea cycle enzyme genes are associated with PPHN.•Association between CPS-1 gene polymorphisms is significantly associated with PPHN.What is New:•The prevalence of CPS-1, A/C trans-version substitution, rs4399666 gene polymorphism in Egyptian neonates presented with idiopathic PPHN.•Mutant CPS-I A/C rs4399666 especially the homozygous CC genotype is more frequently distributed among PPHN, and it is significantly associated with low serum nitric oxide level.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research