UGT1A1基因多态性与云南省傣族新生儿不明原因高胆红素血症的相关性研究  

The correlation of UGT1A1 gene polymorphism and unexplained neonatal hyperbilirubinemia in Dai ethnic group of Yunnan Province

作　　者：段改原 刘玲[1] 李宇晨 蒋雪 Duan Gaiyuan;Liu Ling;Li Yuchen;Jiang Xue(Department of Neonatology,Kunming Municipal Children's Hospital,Kunming 650228,China)

机构地区：[1]昆明市儿童医院新生儿科,昆明650228

出　　处：《中华新生儿科杂志（中英文）》2024年第4期204-208,共5页Chinese Journal of Neonatology

基　　金：云南省科技厅昆明医科大学应用基础研究联合专项(202201AY070001-203)。

摘　　要：目的探讨云南省傣族新生儿不明原因高胆红素血症与尿苷二磷酸葡萄糖醛酸基转移酶1A1(uridine diphosphate glucuronosyl transferase 1A1,UGT1A1)基因多态性之间的关系。方法选取云南省三家医院新生儿病房2020年1月至2022年12月收治的傣族不明原因新生儿高胆红素血症患儿为观察组(高胆组),同时选取同期住院的非高胆红素血症傣族患儿为对照组,进行前瞻性研究,对所有入选患儿进行血清总胆红素水平测定及UGT1A1基因测序,分析UGT1A1基因各基因型频率、等位基因频率在两组患儿中的分布差异及UGT1A1基因各个变异位点对傣族新生儿不明原因高胆红素血症的影响。结果高胆组纳入92例,对照组纳入86例,两组性别、入院日龄、胎龄、出生体重、喂养方式、白细胞、血红蛋白差异均无统计学意义(P>0.05);高胆组检出3个变异位点,分别是c.211G>A、c.1091C>T、c.1456T>G,变异频率依次为45.7%(42/92)、3.3%(3/92)、2.2%(2/92),对照组检出2个变异位点,分别是c.211G>A、c.1091C>T,变异频率依次为17.4%(15/86)、1.2%(1/86);高胆组c.211G>A位点变异型频率(45.7%比17.4%)及A等位基因频率(23.9%比9.3%)高于对照组,差异有统计学意义(P<0.05),而c.1091C>T和c.1456T>G两个位点在两组患儿中分布差异无统计学意义(P>0.05);logistic回归分析显示c.211G>A变异与傣族新生儿发生不明原因的高胆红素血症有关(OR=3.976,95%CI 1.991~7.941)。结论云南省傣族不明原因的高胆红素血症患儿UGT1A1基因最常见的变异位点是c.211G>A,并且c.211G>A变异增加傣族新生儿发生高胆红素血症的风险。Objective To study the correlation of uridine diphosphate glucuronosyl transferase 1A1(UGT1A1)gene polymorphism and neonatal hyperbilirubinemia among Dai ethnic group in Yunnan province.Methods From January 2020 to December 2022,Dai neonates with unexplained neonatal hyperbilirubinemia admitted to three hospitals in Yunnan Province were prospectively enrolled into the hyperbilirubinemia group.Neonates hospitalized during the same period without hyperbilirubinemia were selected as the control group.The serum total bilirubin levels were measured and UGT1A1 gene sequencing was performed in all neonates.The differences of genotype frequency and allele frequency of UGT1A1 gene in the two groups were analyzed.Logistic regression analysis was used to analyze the effects of each mutation on hyperbilirubinemia among Dai neonates.Results A total of 92 neonates were in the hyperbilirubinemia group and 86 in the control group.No significant differences existed between the two groups on following items:gender,age at admission,gestational age(GA),birth weight(BW),feeding pattern,white blood cell count(WBC)and hemoglobin level(P>0.05).Three mutation loci were detected in the hyperbilirubinemia group(c.211G>A,c.1091C>T and c.1456T>G),with frequencies 45.7%,3.3% and 2.2%,respectively.Two mutation loci were detected in the control group(c.211G>A and c.1091C>T),with frequencies 17.4% and 1.2%.Correlation analysis showed that c.211G>A frequency(45.7%)and A allele frequency(23.9%)in the hyperbilirubinemia group were significantly higher than the control group(P<0.05).No significant differences existed in the frequencies of c.1091C>T and c.1456T>G between the two groups(P>0.05).Logistic regression analysis showed that c.211G>A was risk factor of unexplained neonatal hyperbilirubinemia in Dai neonates(OR=3.976,95%CI 1.991-7.941).Conclusions The most common mutation of UGT1A1 gene in Chinese Dai neonates with unexplained neonatal hyperbilirubinemia in Yunnan Province is c.211G>A,which increases the risk of hyperbilirubinemia.

关 键 词：UGT1A1基因 高胆红素血症 新生儿 傣族 

分 类 号：R722.17[医药卫生—儿科]