UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China.
UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China.
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UGT1A1突变与中国ABO不合新生儿胆红素水平升高和非结合高胆红素血症严重程度的相关性
DOI：
10.1186/s12887-021-02726-9
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发表时间：
2021-06-01
期刊：
影响因子：
2.4
通讯作者：
Yang LY
中科院分区：
文献类型：
--
作者：
Yang H;Lin F;Chen ZK;Zhang L;Xu JX;Wu YH;Gu JY;Ma YB;Li JD;Yang LY
新生儿高胆红素血症导致黄疸在东亚人群中很常见。尿苷二磷酸葡萄糖醛酸基转移酶同工酶（UGT 1A 1）使胆红素葡萄糖醛酸化，并将胆红素的毒性形式转化为无毒形式。对2011年至2017年中国南方某大型综合医院新生儿科收治的因新生儿高胆红素血症转诊的ABO溶血新生儿（ABO HDN）的临床信息进行回顾性研究。通过直接测序或基因型测定确定UGT 1A 1的变异状态。最终分析纳入69例ABO HDN。UGT 1A 1 c.211 G > A突变（UGT 1A 1 *6，p.Arg71Gly，rs 4148323）与ABO HDN胆红素升高显著相关（TBIL P = 0.019，IBIL P = 0.02）。此外，在研究队列中，与UGT 1A 1基因型正常的患者相比，编码序列区的杂合和/或纯合UGT 1A 1突变与发生危险性高胆红素血症（定义为TSB > 427 umol/L）的风险增加显著相关（ORadj = 9.16，95%CI 1.99-42.08，P = 0.002）。UGT 1A 1基因编码区变异与新生儿ABO溶血相关性高胆红素血症的发生密切相关。UGT 1A 1基因检测对新生儿高未结合胆红素血症的临床诊断有一定意义。
Neonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin to its nontoxic form. A retrospective study was conducted to review clinical information of ABO hemolysis neonates (ABO HDN) admitted to the Department of Neonatology, referred for neonatal hyperbilirubinemia, in a large general hospital of southern China from 2011 to 2017. Variation status of UGT1A1 was determined by direct sequencing or genotype assays. Sixty-nine ABO HDNs were included into the final analysis. UGT1A1 c.211 G > A mutation (UGT1A1*6, p.Arg71Gly, rs4148323) was significantly associated with the increased bilirubin level in ABO HDNs, after adjusted by age, sex and feeding method (P = 0.019 for TBIL, P = 0.02 for IBIL). Moreover, heterozygous and/or homozygous UGT1A1 mutations in the coding sequence region were significantly associated with the increased risk of developing hazardous hyperbilirubinemia (as defined by TSB > 427 umol/L) as compared those with a normal UGT1A1 genotype (ORadj = 9.16, 95%CI 1.99–42.08, P = 0.002) in the study cohort. UGT1A1 variant in coding region is actively involved in the pathogenesis of ABO hemolysis related neonatal hyperbilirubinemia. Genetic assessment of UGT1A1 may be useful for clinical diagnosis of neonatal unconjugated hyperbilirubinemia.
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影响因子：
3
作者：
Watchko, Jon F.;Lin, Zhili
通讯作者：
Lin, Zhili
影响因子：
3.6
作者：
Huang, MJ;Kua, KE;Huang, CS
通讯作者：
Huang, CS
DOI：
10.1097/00008571-200008000-00007
发表时间：
2000-08-01
期刊：
PHARMACOGENETICS
影响因子：
--
作者：
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通讯作者：
Yang, SS
影响因子：
5.8
作者：
Sole, Xavier;Guino, Elisabet;Moreno, Vitor
通讯作者：
Moreno, Vitor
影响因子：
2
作者：
Yu, Yingfang;Du, Lizhong;Chen, Lihua
通讯作者：
Chen, Lihua