Department of Pediatrics, School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center (MUMC+), Maastricht, The Netherlands.
PLoS One. 2010 May 25;5(5):e10792. doi: 10.1371/journal.pone.0010792.
A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been associated with changes in plasma concentrations of L-arginine in term and near term infants but not in adults. In preterm infants homozygosity for the CPS1 Thr1405 variant (CC genotype) was associated with an increased risk of having necrotizing enterocolitis (NEC). Plasma L-arginine concentrations are decreased in preterm infants with NEC.
To examine the putative association between the CPS1 T1405N polymorphism and plasma arginine concentrations in preterm infants.
Prospective multicenter cohort study. Plasma and DNA samples were collected from 128 preterm infants (<30 weeks) between 6 and 12 hours after birth. Plasma amino acid and CPS1 T1405N polymorphism analysis were performed.
Distribution of genotypes did not differ between the preterm (CC:CA:AA = 55.5%:33.6%:10.9%, n = 128) and term infants (CC:CA:AA = 54.2%:35.4%:10.4%, n = 96). There was no association between the CPS1 genotype and plasma L-arginine or L-citrulline concentration, or the ornithine to citrulline ratio, which varies inversely with CPS1 activity. Also the levels of asymmetric dimethylarginine, and symmetric dimethylarginine were not significantly different among the three genotypes.
The present study in preterm infants did not confirm the earlier reported association between CPS1 genotype and L-arginine levels in term infants.
编码氨基甲酰磷酸合成酶 1（CPS1）的基因中的 C 到 A 核苷酸颠换（T1405N）与足月和近足月婴儿血浆 L-精氨酸浓度的变化有关，但与成人无关。在早产儿中，CPS1 Thr1405 变异（CC 基因型）纯合子与坏死性小肠结肠炎（NEC）的风险增加有关。患有 NEC 的早产儿的血浆 L-精氨酸浓度降低。
检查 CPS1 T1405N 多态性与早产儿血浆精氨酸浓度之间的可能关联。
前瞻性多中心队列研究。在出生后 6 至 12 小时内，从 128 名早产儿（<30 周）中收集血浆和 DNA 样本。进行血浆氨基酸和 CPS1 T1405N 多态性分析。
早产儿（CC：CA：AA = 55.5%：33.6%：10.9%，n = 128）和足月婴儿（CC：CA：AA = 54.2%：35.4%：10.4%，n = 96）的基因型分布无差异。CPS1 基因型与血浆 L-精氨酸或 L-瓜氨酸浓度或鸟氨酸到瓜氨酸比均无关联，后者与 CPS1 活性呈反比。三种基因型之间的不对称二甲基精氨酸和对称二甲基精氨酸水平也没有显着差异。
本研究在早产儿中未证实先前报道的 CPS1 基因型与足月婴儿 L-精氨酸水平之间的关联。
