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首页> 外文期刊>Balkan journal of medical genetics: BJMG >UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia
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UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

机译：UGT1A1（TA）n启动子基因型：塞尔维亚的诊断和群体药理遗传标记

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摘要

The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele. Also, the UGT1A1 (TA)n promoter genotype is recognized as a clinically relevant pharmacogenetic marker. The aim of this study was to assess diagnostic value of UGT1A1 (TA)n promoter genotyping in pediatric GS patients. Correlation of the UGT1A1 (TA)n genotypes and level of unconjugated bilirubin at diagnosis and after hypocaloric and phenobarbitone tests in these patients was analyzed. Another aim of the study was to assess pharmacogenetic potential of UGT1A1 (TA)n variants in Serbia. Fifty-one pediatric GS patients and 100 healthy individuals were genotyped using different methodologies, polymerase chain reaction (PCR) followed by acrylamide electrophoresis, fragment length analysis and/or DNA sequencing. Concordance of the UGT1A1 (TA)n promoter risk GS genotypes with GS was found in 80.0% of patients. Therefore, UGT1A1 (TA)n promoter genotyping is not a reliable genetic test for GS, but it is useful for differential diagnosis of diseases associated with hyperbilirubinemia. Level of bilirubin in pediatric GS patients at diagnosis was UGT1A1 (TA)n promoter genotype-dependent. We found that the frequency of pharmacogenetic relevant UGT1A1 (TA)n promoter genotypes was 63.0%, pointing out that UGT1A1 (TA)n promoter genotyping could be recommended for preemptive pharmacogenetic testing in Serbia.
机译：UGT1A1酶参与胆红素和许多药物的代谢。未结合的高胆红素血症，通常表现为吉尔伯特综合征（GS），是UGT1A1酶活性降低的结果，UGT1A1基因启动子中TA重复数目的变化会影响酶的活性。七个和八个TA重复序列会降低UGT1A1活性并降低GS等位基因的风险，而六个TA重复序列则有助于正常的UGT1A1活性和非风险GS等位基因。同样，UGT1A1（TA）n启动子基因型被认为是临床相关的药物遗传标记。这项研究的目的是评估UGT1A1（TA）n启动子基因分型对小儿GS患者的诊断价值。分析了这些患者在诊断时以及低热量和苯巴比妥试验后UGT1A1（TA）n基因型与未结合胆红素水平的相关性。这项研究的另一个目的是评估UGT1A1（TA）n变体在塞尔维亚的药理潜力。使用不同的方法，聚合酶链反应（PCR），丙烯酰胺电泳，片段长度分析和/或DNA测序对51名小儿GS患者和100名健康个体进行基因分型。在80.0％的患者中发现了UGT1A1（TA）n启动子风险GS基因型与GS的一致性。因此，UGT1A1（TA）n启动子的基因分型不是GS的可靠基因测试，但可用于与高胆红素血症相关疾病的鉴别诊断。诊断时，小儿GS患者的胆红素水平是UGT1A1（TA）n启动子基因型依赖性的。我们发现与药物遗传相关的UGT1A1（TA）n启动子基因型的频率为63.0％，指出UGT1A1（TA）n启动子基因型可以推荐用于塞尔维亚的先发性药物遗传学测试。

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