N Hakan, M Aydin, S Ceylaner, D Dilli, A Zenciroğlu, N Okumuş
{"title":"基因多态性在新生儿高胆红素血症中起作用吗?","authors":"N Hakan, M Aydin, S Ceylaner, D Dilli, A Zenciroğlu, N Okumuş","doi":"10.2478/bjmg-2023-0021","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (<i>UGT1A1</i>) gene, hepatic solute carrier organic anion transporter 1B1/B3 (<i>SLCO1B1/3</i>) gene, and glutathione S-transferase (<i>GST</i>) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of <i>UGT1A1</i>, <i>SLCO1B1/3</i> and <i>GST</i> genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants.</p><p><strong>Methods: </strong>The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls. Ten common polymorphisms in four genes involved in bilirubin metabolism were examined. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect variants of those genes.</p><p><strong>Results: </strong>No association was found between the variants of <i>UGT1A1</i> at nt 211, the <i>SLCO1B1</i> gene at nt 388, 463, 521, 1463, the <i>SLCO1B3</i> gene at nt 334, 727+118, 1865+19721, and the <i>GST</i> gene at nt 313, 341, and neonatal hyperbilirubinemia. There was no difference between the case and control groups in terms of allele frequencies of these genes (except <i>SLCO1B3</i> at nt 334) (p>0.05 in all comparisons). The presence of the G allele of the <i>SLCO1B3</i> at nt 334 variant gene seemed to protect from jaundice in infants with idiopathic hyperbilirubinemia.</p><p><strong>Conclusion: </strong>These gene polymorphisms currently studied do not seem to modulate the risk of hyperbilirubinemia in Turkish newborn infants.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"26 2","pages":"51-58"},"PeriodicalIF":0.5000,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932595/pdf/","citationCount":"0","resultStr":"{\"title\":\"Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?\",\"authors\":\"N Hakan, M Aydin, S Ceylaner, D Dilli, A Zenciroğlu, N Okumuş\",\"doi\":\"10.2478/bjmg-2023-0021\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (<i>UGT1A1</i>) gene, hepatic solute carrier organic anion transporter 1B1/B3 (<i>SLCO1B1/3</i>) gene, and glutathione S-transferase (<i>GST</i>) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of <i>UGT1A1</i>, <i>SLCO1B1/3</i> and <i>GST</i> genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants.</p><p><strong>Methods: </strong>The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls. Ten common polymorphisms in four genes involved in bilirubin metabolism were examined. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect variants of those genes.</p><p><strong>Results: </strong>No association was found between the variants of <i>UGT1A1</i> at nt 211, the <i>SLCO1B1</i> gene at nt 388, 463, 521, 1463, the <i>SLCO1B3</i> gene at nt 334, 727+118, 1865+19721, and the <i>GST</i> gene at nt 313, 341, and neonatal hyperbilirubinemia. There was no difference between the case and control groups in terms of allele frequencies of these genes (except <i>SLCO1B3</i> at nt 334) (p>0.05 in all comparisons). The presence of the G allele of the <i>SLCO1B3</i> at nt 334 variant gene seemed to protect from jaundice in infants with idiopathic hyperbilirubinemia.</p><p><strong>Conclusion: </strong>These gene polymorphisms currently studied do not seem to modulate the risk of hyperbilirubinemia in Turkish newborn infants.</p>\",\"PeriodicalId\":55403,\"journal\":{\"name\":\"Balkan Journal of Medical Genetics\",\"volume\":\"26 2\",\"pages\":\"51-58\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-03-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10932595/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Balkan Journal of Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2478/bjmg-2023-0021\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/12/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Balkan Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2478/bjmg-2023-0021","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/12/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
摘要
研究目的在一些人群中,尿苷-二磷酸-葡萄糖醛酸转移酶 1A1 (UGT1A1) 基因、肝脏溶质载体有机阴离子转运体 1B1/B3 (SLCO1B1/3) 基因和谷胱甘肽 S 转移酶 (GST) 基因的多态性与显著的高胆红素血症有关。本研究旨在确定 UGT1A1、SLCO1B1/3 和 GST 基因的变异是否在土耳其新生儿高胆红素血症中起重要作用:研究包括 61 例特发性高胆红素血症病例、28 例黄疸持续时间较长病例和 41 例对照病例。研究人员对涉及胆红素代谢的四个基因中的十个常见多态性进行了检测。采用聚合酶链式反应-限制性片段长度多态性方法检测这些基因的变异:结果:UGT1A1基因第211位点,SLCO1B1基因第388、463、521、1463位点,SLCO1B3基因第334、727+118、1865+19721位点,GST基因第313、341位点的变异与新生儿高胆红素血症之间没有关联。病例组和对照组在这些基因的等位基因频率方面(除 nt 334 处的 SLCO1B3 外)没有差异(所有比较中的 p>0.05)。在特发性高胆红素血症婴儿中,SLCO1B3 第 334 nt 位点变异基因的 G 等位基因的存在似乎对黄疸有保护作用:结论:目前研究的这些基因多态性似乎不会影响土耳其新生儿患高胆红素血症的风险。
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?
Objectives: Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (UGT1A1) gene, hepatic solute carrier organic anion transporter 1B1/B3 (SLCO1B1/3) gene, and glutathione S-transferase (GST) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of UGT1A1, SLCO1B1/3 and GST genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants.
Methods: The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls. Ten common polymorphisms in four genes involved in bilirubin metabolism were examined. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect variants of those genes.
Results: No association was found between the variants of UGT1A1 at nt 211, the SLCO1B1 gene at nt 388, 463, 521, 1463, the SLCO1B3 gene at nt 334, 727+118, 1865+19721, and the GST gene at nt 313, 341, and neonatal hyperbilirubinemia. There was no difference between the case and control groups in terms of allele frequencies of these genes (except SLCO1B3 at nt 334) (p>0.05 in all comparisons). The presence of the G allele of the SLCO1B3 at nt 334 variant gene seemed to protect from jaundice in infants with idiopathic hyperbilirubinemia.
Conclusion: These gene polymorphisms currently studied do not seem to modulate the risk of hyperbilirubinemia in Turkish newborn infants.
期刊介绍:
Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.