Background To investigate the relationship between unexplained indirect hyperbilirubinemia of Vietnamese newborns and the polymorphism of the promoter TATA box and exon 1 of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene. Methods A total of 149 neonates were divided into the hyperbilirubinemia group ( n = 99) and control group ( n = 50). The gene polymorphisms of UGT1A1 gene in the two groups were detected by PCR and direct sequencing, which revealed the relationship between UGT1A1 polymorphism with neonatal hyperbilirubinemia of neonates. The types of UGT1A1 polymorphism in the hyperbilirubinemia group and the peak total serum bilirubin (PSB) levels with different genotypes were observed. Results (1) (TA)7 insertion mutation, 211G>A, 189C>T, 190G>A, 378C>T and 686C>A were detected. (2) The allele frequency of 211G>A allele mutation was significantly different between the two groups ( p < 0.05). (3) Logistic regression analysis showed that homozygosity and heterozygosity of 211G>A were both significantly associated with neonatal hyperbilirubinemia. (4) In the hyperbilirubinemia group, the peak total serum bilirubin level of 211G>A homozygous neonates was higher than that of the wild-type neonates ( p < 0.05). Conclusions We noted that there was an association between neonates with unexplained indirect hyperbilirubinemia in Vietnam and the polymorphism of UGT1A1c.211G>A. In addition, the homozygous 211G>A polymorphism was related to the degree of hyperbilirubinemia. Impact Our article provided data on UGT1A1 polymorphism distribution in the Vietnamese population, which have not been reported yet. Our findings revealed that mutations in UGT1A1 gene are risk factors for unexplained hyperbilirubinemia in Vietnamese neonates. Our article will strengthen the cognition of neonatal jaundice at the genetic level in the pediatric field in Vietnam.

中文翻译：

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越南新生儿高胆红素血症与UGT1A1基因多态性启动子区和第一外显子的关系

背景 探讨越南新生儿不明原因间接高胆红素血症与胆红素尿苷二磷酸葡萄糖醛酸转移酶（UGT1A1）基因启动子TATA盒和外显子1多态性的关系。方法 149例新生儿分为高胆红素血症组（n=99）和对照组（n=50）。PCR和直接测序检测两组UGT1A1基因的基因多态性，揭示了UGT1A1多态性与新生儿新生儿高胆红素血症的关系。观察高胆红素血症组UGT1A1多态性类型及不同基因型的血清总胆红素(PSB)峰值水平。结果(1)检测到(TA)7插入突变，211G>A、189C>T、190G>A、378C>T和686C>A。(2)211G>A等位基因突变频率两组间差异显着(p<0.05)。(3)Logistic回归分析显示211G>A的纯合子和杂合子均与新生儿高胆红素血症显着相关。(4)高胆红素血症组211G>A纯合新生儿血清总胆红素峰值水平高于野生型新生儿( p < 0.05)。结论 我们注意到越南不明原因间接高胆红素血症的新生儿与 UGT1A1c.211G>A 的多态性之间存在关联。此外，纯合子211G>A多态性与高胆红素血症程度有关。影响 我们的文章提供了越南人群中 UGT1A1 多态性分布的数据，但尚未报道。我们的研究结果表明，UGT1A1 基因突变是越南新生儿不明原因高胆红素血症的危险因素。我们的文章将在越南儿科领域从基因层面加强对新生儿黄疸的认知。