新生儿高胆红素血症与UGT1A1基因突变的关系研究

Study on the relationship between neonatal hyperbilirubinemia and UGT1A1 gene mutation

目的分析新生儿高胆红素血症与UGT1A1基因突变的关系。方法选取2021年1月至2022年1月古蔺县人民医院收治的新生儿高胆红素血症患儿100例为观察组,选择同期体检健康新生儿50名为对照组。比较两组UGT1A1基因检测结果及一般资料,运用多因素Logistic回归分析新生儿高胆红素血症的危险因素。结果观察组的血清总胆红素显著高于对照组,差异有统计学意义(P<0.05)。在UGT1A1基因启动子区共发现TATA错义突变47例,观察组35例,对照组12例,观察组的TATA(TA)6/7错义突变基因分布、基因频率均高于对照组,差异无统计学意义(P>0.05)。在UGT1A1基因第1外显子区共发现P229Q错义突变8例,其中观察组7例,对照组1例,观察组的P229Q(TA)6/7错义突变基因分布、基因频率均高于对照组,差异无统计学意义(P>0.05)。在UGT1A1基因1外显子区共发现G71R错义突变33例,其中观察组18例,对照组15例,观察组的G71R(TA)6/7错义突变基因分布、基因频率均高于对照组,差异有统计学意义(P<0.05)。多因素Logistic回归分析结果显示,G71R错义突变是新生儿高胆红素血症的独立危险因素(OR=5.376,P<0.05)。结论新生儿高胆红素血症的发生和G71R错义突变有关,UGT1A1 G71R错义突变可能是该病发生的危险因素,UGT1A1G71R错义突变可能会提高新生儿高胆红素血症的发病几率,该项研究可为临床发生不明原因新生儿高胆红素血症提供检测依据。

Objective To analyze the association between neonatal hyperbilirubinemia and muta⁃tions in the UGT1A1 gene.Methods 100 cases of neonatal hyperbilirubinemia admitted to Gulin County Peo⁃ple􀆳s Hospital between January 2021 and January 2022 were selected as the observation group,and 50 healthy newborns with physical examination during the same period were selected as the control group.The UGT1A1 gene test results and general information brtween the two groups were compared,and the risk factors of neona⁃tal hyperbilirubinemia were analyzed by multifactorial logistic regression.Results A total of 47 cases of TA⁃TA box insertion mutations were found in the promoter region of UGT1A1 gene,35 cases in the observation group and 12 cases in the control group,and the distribution of genes and gene frequency of TATA box(TA)6/7 insertion mutations in the observation group were higher than those in the control group,and the difference was not statistically significant(P>0.05).A total of 8 cases of P229Q missense mutation were found in the ex⁃on 1 region of UGT1A1 gene,including 7 cases in the observation group and 1 case in the control group,and the distribution and gene frequency of P229Q(TA)6/7 missense mutation gene in the observation group were higher than those in the control group,and the difference was not statistically significant(P>0.05).A total of 33 cases of G71R missense mutation were found in exon 1 region of UGT1A1 gene,of which 18 cases were in the observation group and 15 cases were in the control group,and the distribution and gene frequency of G71R(TA)6/7 missense mutation gene in the observation group were higher than those in the control group,and the difference was statistically significant(P<0.05).The results of multifactorial logistic regression analysis showed that G71R missense mutation was an independent risk factor for neonatal hyperbilirubinemia(OR=5.376,P<0.05).Conclusion The occurrence of neonatal hyperbilirubinemia is associated with G71R mis⁃sense mutation,UGT1A1 G71R missense mutation may be a risk factor for the occurrence of this disease,UGT1A1 G71R missense mutation may increase the incidence of neonatal hyperbilirubinemia,this study can provide a basis for the detection of clinically occurring unexplained neonatal hyperbilirubinemia.