UGT1A1基因多态性与ABO溶血致新生儿高胆红素血症的相关性分析  

Correlation between the Polymorphism of UGT1A1 Gene and ABO Hemolysis Induced Neonatal Hyperbilirubinemia

作　　者：陈龙英 黄久浪 彭好[1] CHEN Longying;HUANG Jiulang;PENG Hao(Department of Pediatrics,the Central Hospital of Suining City,Suining,Sichuan 629000,China)

机构地区：[1]遂宁市中心医院儿科,四川遂宁629000

出　　处：《转化医学杂志》2023年第3期199-203,共5页Translational Medicine Journal

基　　金：2019年四川省医学(青年创新)科研课题(S19015)。

摘　　要：目的分析尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因多态性与ABO溶血致新生儿高胆红素血症的相关性。方法选取2021年6月—2022年6月确诊的ABO溶血致高胆红素血症足月新生儿80例作为研究组,另选取同期收治的非溶血性病理性黄疸足月新生儿55例作为对照组,分析2组UGT1A1基因位点单核苷酸多态性(SNPs)及不同基因型与ABO溶血致新生儿高胆红素血症的相关性,比较UGT1A1不同基因型患儿血清胆红素水平。结果研究组UGT1A1*6位点GG、GA、AA基因型频率和G、A等位基因频率高于对照组(P<0.05);2组UGT1A1*28位点(TA)6/(TA)6、(TA)6/(TA)7、(TA)7/(TA)7基因型频率和(TA)6、(TA)7等位基因频率比较差异无统计学意义(P>0.05)。多因素Logistic回归分析结果显示,UGT1A1基因多态性与ABO溶血致新生儿高胆红素血症无相关性(P>0.05)。研究组UGT1A1基因UGT1A1*6位点不同基因型患儿血清总胆红素、非结合胆红素水平比较差异有统计学意义(P<0.01),AA基因型患儿血清总胆红素、非结合胆红素水平显著高于GG、GA基因型患儿(P<0.05);UGT1A1*28位点各基因型患儿血清总胆红素、非结合胆红素水平比较差异无统计学意义(P>0.05)。结论UGT1A1基因多态性与ABO溶血致新生儿高胆红素血症无相关性,但UGT1A1*6位点纯合突变的ABO溶血患儿血清胆红素水平显著升高。Objective To analyze the correlation between the polymorphism of uridine diphosphate glucuronic transferase 1A1(UGT1A1)gene and ABO hemolysis induced neonatal hyperbilirubinemia(NHB).Methods Eighty full-term neonates admitted to our hospital and diagnosed with ABO hemolysis-induced NHB from June 2021 to June 2022 were selected as the research group,and 55 full-term neonates with non-hemolytic pathological jaundice admitted during the same period were selected as the control group.The correlation of single nucleotide polymorphisms(SNPs)of UGT1A1 gene locus and different genotypes with ABO hemolysis induced NHB was analyzed in the two groups,and serum bilirubin levels of children with different genotypes of UGT1A1 were compared.Results The frequencies of GG,GA and AA genotypes and the frequencies of G and A alleles at UGT1A1*6 sites in the research group were higher than those in the control group(P<0.05).There was no significant difference in genotype frequency of UGT1A1*28 loci(TA)6/(TA)6,(TA)6/(TA)7,(TA)7/(TA)7 and allele frequency of(TA)6 and(TA)7 between the two groups(P>0.05).Multivariate Logistic regression analysis showed that there was no correlation between UGT1A1 gene polymorphism and ABO hemolysis-induced NHB(P>0.05).The serum levels of total bilirubin and unbound bilirubin in children with different genotypes of UGT1A1 gene UGT1A1*6 were significantly different in the research group(P<0.01).The serum levels of total bilirubin and unbound bilirubin in children with AA genotype were significantly higher than those in children with GG and GA genotypes(P<0.05).There was no significant difference in serum total bilirubin and unbound bilirubin levels among children with UGT1A1*28 genotypes(P>0.05).Conclusion There is no correlation between the polymorphism of UGT1A1 gene and ABO hemolysis induced NHB,but serum bilirubin level of ABO hemolysis children with homozygous mutation at UGT1A1*6 site is significantly increased.

关 键 词：高胆红素血症 新生儿 ABO溶血症 尿苷二磷酸葡萄糖醛酸转移酶1A1 基因多态性 总胆红素 非结合胆红素 相关性 

分 类 号：R722.17[医药卫生—儿科]