总胆汁酸与SLCO1B1 521T>C基因多态性的交互作用对新生儿高胆红素血症的影响  

Effect of total bile acid interaction with SLCO1B1521T>C gene polymorphism on neonatal hyperbilirubinemia

作　　者：曾品芳 罗天宽[1] 万鸿[1] 刘茜 ZENG Pinfang;LUO Tiankuan;WAN Hong;LIU Qian(Department of Pediatrics,Leshan Maternal and Child Health Hospital of Sichuan Province,Leshan,Sichuan 614000,China;Zhejiang Bosheng Biotechnology Co.,Ltd.,Hangzhou,Zhejiang 310012,China)

机构地区：[1]四川省乐山市妇幼保健院儿科,四川乐山614000 [2]浙江博圣生物技术股份有限公司,浙江杭州310012

出　　处：《中国优生与遗传杂志》2023年第8期1705-1710,共6页Chinese Journal of Birth Health & Heredity

基　　金：乐山市卫生健康委员会(22SZD139)。

摘　　要：目的 探讨总胆汁酸与SLCO1B1 521T>C基因多态性的交互作用对新生儿高胆红素血症的影响。方法 选择2020年1月至2023年2月新生儿高胆红素血症患儿100例为观察组,另选100例健康新生儿为对照组。比较两组的一般资料及分析SLCO1B1 521T>C基因多态性位点基因型及等位基因频率分布。比较观察组不同基因型患儿血清总胆红素和总胆汁酸水平及与新生儿发生高胆红素血症易感性的关系及交互作用。结果 观察组在总胆红素、总胆汁酸方面显著高于对照组(P<0.05)。两组新生儿TT、TC、CC基因频率及基因T、C分布差异(P<0.05)。与观察组SLCO1B1 521T>C位点基因型TT患儿比较,基因型CC、TC患儿血清总胆红素、总胆汁酸水平均升高(P<0.05)。SLCO1B1 521T>C位点基因型CC、携带等位基因C和总胆汁酸是新生儿发生高胆红素血症的独立危险因素(P<0.05)。SLCO1B1 521T>C位点基因型CC和总胆汁酸在新生儿高胆红素血症易感性中呈正向交互作用。结论 SLCO1B1 521T>C位点基因型CC和总胆汁酸在新生儿高胆红素血症易感性中呈正向交互作用且易感性显著增加,应引起临床上重视并早期制定预防措施。Objective To explore the effect of interaction between total bile acid and SLCO1B1521T>C gene poly-morphism on neonatal hyperbilirubinemia.Methods 100 neonates with hyperbilirubinemia from January 2020 to February 2023 were selected as observation group,and 100 healthy neonates were selected as control group.The general data of the two groups were compared and the frequency distribution of alleles and genotypes of SLCO1B1521T>C gene polymorphic loci were analyzed.To compare the serum total bilirubin and total bile acid levels and their relationship and interaction with neo-natal hyperbilirubinemia susceptibility in different genotypes.Results The total bilirubin and total bile acid in the observation group were significantly higher than those in the control group(P<0.05).The frequencies of TT,TC and CC genes and the distribution of T and C genes were different between the two groups(P<0.05).Compared with the observation group of SLCO1B1521T>C genotype TT children,the serum total bilirubin and total bile acid levels of the CC and TC children were increased(P<0.05).SLCO1B1521T>C genotype CC,carrying allele C and total bile acid were independent risk factors for neonatal hyperbilirubinemia(P<0.05).SLCO1B1521T>C locus CC and total bile acid interact positively in neonatal hyper-bilirubinemia susceptibility.Conclusion SLCO1B1521T>C genotype CC and total bile acid have a positive interaction in neonatal hyperbilirubinemia susceptibility,and the susceptibility increases significantly.

关 键 词：总胆汁酸 SLCO1B1521T>C 基因多态性 交互作用 新生儿高胆红素血症 

分 类 号：R722.1[医药卫生—儿科]