{"title":"The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility.","authors":"Zijin Li, Li Song, Lihong Hao","doi":"10.1186/s12881-020-01155-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279 T > G) polymorphisms and NNH risk.</p><p><strong>Methods: </strong>We searched PubMed, the Cochrane Library, and the Embase electronic databases. All published eligible studies before July 1, 2019, were searched for this meta-analysis.</p><p><strong>Results: </strong>We identified 7 independent studies including 1560 cases. The data showed that in the general population, compared with the GT + GG vs TT and GG vs TT, c.-3279 T > G (rs4124874) was significantly related to a higher NNH risk (GG vs TT: OR = 1.865, 95% CI: 1.031-3.373, P = 0.039; GT + GG vs TT: OR = 1.331, 95% CI: 1.055-1.679, P = 0.016). Although not statistically significant, the data showed that c.3279 T > G had a tendency to be associated with NNH under the allele model and GG vs GT + TT in the overall population (G vs T: OR = 1.288, 95% CI: 0.982-1.689, P = 0.067; GG vs TT + GT: OR = 1.583, 95% CI: 0.947-2.647, P = 0.080).</p><p><strong>Conclusion: </strong>The UGT1A1 gene c.-3279 T > G (rs4124874) polymorphism increased susceptibility to NNH, especially for the comparison of GT + GG vs TT and GG vs TT. In the future, we can use homozygous state of the UGT1A1 gene c.-3279 T > G (rs4124874) polymorphism for the diagnosis and screening of molecular biomarkers in NNH patients.</p>","PeriodicalId":9015,"journal":{"name":"BMC Medical Genetics","volume":" ","pages":"218"},"PeriodicalIF":0.0000,"publicationDate":"2020-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12881-020-01155-2","citationCount":"7","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12881-020-01155-2","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 7
Abstract
Background: Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279 T > G) polymorphisms and NNH risk.
Methods: We searched PubMed, the Cochrane Library, and the Embase electronic databases. All published eligible studies before July 1, 2019, were searched for this meta-analysis.
Results: We identified 7 independent studies including 1560 cases. The data showed that in the general population, compared with the GT + GG vs TT and GG vs TT, c.-3279 T > G (rs4124874) was significantly related to a higher NNH risk (GG vs TT: OR = 1.865, 95% CI: 1.031-3.373, P = 0.039; GT + GG vs TT: OR = 1.331, 95% CI: 1.055-1.679, P = 0.016). Although not statistically significant, the data showed that c.3279 T > G had a tendency to be associated with NNH under the allele model and GG vs GT + TT in the overall population (G vs T: OR = 1.288, 95% CI: 0.982-1.689, P = 0.067; GG vs TT + GT: OR = 1.583, 95% CI: 0.947-2.647, P = 0.080).
Conclusion: The UGT1A1 gene c.-3279 T > G (rs4124874) polymorphism increased susceptibility to NNH, especially for the comparison of GT + GG vs TT and GG vs TT. In the future, we can use homozygous state of the UGT1A1 gene c.-3279 T > G (rs4124874) polymorphism for the diagnosis and screening of molecular biomarkers in NNH patients.
背景:新生儿高胆红素血症(NNH)是新生儿常见病。本研究旨在评估尿苷二磷酸-葡萄糖醛酸-葡萄糖醛酸基转移酶1A1 (UGT1A1, c -3279 T > G)多态性与NNH风险之间的关系。方法:检索PubMed、Cochrane图书馆和Embase电子数据库。本荟萃分析检索了2019年7月1日之前发表的所有符合条件的研究。结果:我们纳入了7项独立研究，包括1560例病例。数据显示，在一般人群中，与GT + GG vs TT和GG vs TT相比，c -3279 T > G (rs4124874)与NNH风险升高显著相关(GG vs TT: OR = 1.865, 95% CI: 1.031-3.373, P = 0.039;GT + GG vs TT: = 1.331, 95%置信区间CI: 1.055 - -1.679, P = 0.016)。虽然没有统计学意义，但数据显示，在等位基因模型下，c.3279 T > G倾向于与NNH相关，总体上GG vs GT + TT倾向于与NNH相关(G vs T: OR = 1.288, 95% CI: 0.982 ~ 1.689, P = 0.067;GG vs TT + GT: = 1.583, 95%置信区间CI: 0.947 - -2.647, P = 0.080)。结论:UGT1A1基因c -3279 T > G (rs4124874)多态性增加了NNH的易感性，特别是GT + GG vs TT和GG vs TT的比较。未来，我们可以利用UGT1A1基因c -3279 T > G (rs4124874)多态性的纯合状态进行NNH患者分子生物标志物的诊断和筛选。
期刊介绍：
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.
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