足月新生儿黄疸与维生素D及NADSYN1基因多态性的相关性研究

目的 研究足月新生儿黄疸、维生素D（VD）水平及NADSYN1基因rs12785878位点单核苷酸多态性（SNP）间的关系。方法 回顾性分析216例患有黄疸的足月新生儿的临床资料,利用液相色谱-串联质谱法（LC-MS/MS）检测血清VD水平,高分辨熔解曲线（HRM）分析NADSYN1基因rs12785878位点SNP。以患儿是否>14 d分组并分别分析高胆红素血症的影响因素。结果 对于≤14 d患儿,感染、剖宫产、母乳喂养为高胆红素血症发生的危险因素;对于>14 d患儿,感染、低血浆蛋白为高胆红素血症发生的危险因素。建立的rs12785878位点HRM方法扩增反应良好,GG、GT、TT基因型区分明显。高胆组患儿携带GG基因型、G等位基因的比例更高。≤14 d患儿,TT基因型新生儿VD水平高于GG基因型新生儿（12.61±5.23）μg/L vs.（9.62±4.24）μg/L,P<0.05]。结论 NADSYN1基因rs12785878位点GG基因型为高胆红素血症、≤14 d新生儿低VD水平的危险因素,可作为足月新生儿高胆红素血症诊治的新参考。

Correlation between jaundice and vitamin D and NADSYN1 gene polymorphism in full-term neonates

Objective To study the relationship between full-term neonatal jaundice, vitamin D (VD) levels, and single nucleotide polymorphisms (SNP) at rs12785878 of NADSYN1 gene. Methods The clinical data of 216 full-term infants with neonatal jaundice were retrospectively analyzed. The serum VD level was detected by liquid chromatography tandem mass spectrometry (LC-MS/MS), and a high-resolution melting curve (HRM) method was established to analyze the SNP of the NADSYN1 gene rs12785878 site. The infants were divided into groups according to whether they were older than 14 days, and the risk factors of hyperbilirubinemia were analyzed respectively. Results In infants ≤14 days, infection, cesarean and breast feeding were risk factors for hyperbilirubinemia. In infants >14 days, infection and hypoplasma protein were risk factors for hyperbilirubinemia. The established HRM analysis method of the rs12785878 site had a normal amplification reaction, and the genotypes of GG, GT and TT were well distinguished. The proportion of GG genotype and G allele was higher in the case group than that in the control group. In infants ≤14 days, the average VD value was higher in the TT genotype than that of the GG genotype (12.61±5.23) μg/L vs. (9.62±4.24) μg/L, P<0.05]. Conclusion The GG genotype at rs12785878 of NADSYN1 gene is a risk factor for hyperbilirubinemia and low VD level in neonates ≤14 days old, which can be used as a new reference for the diagnosis and treatment of hyperbilirubinemia in full-term neonates.