The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns

Background To investigate the relationship between unexplained indirect hyperbilirubinemia of Vietnamese newborns and the polymorphism of the promoter TATA box and exon 1 of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene. Methods A total of 149 neonates were divided into the hyp...

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Veröffentlicht in:Pediatric research 2020-12, Vol.88 (6), p.940-944
Hauptverfasser: Nguyen, Tien-Thanh, Zhao, Wei, Yang, Xi, Zhong, Dan-Ni
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Zhao, Wei
Yang, Xi
Zhong, Dan-Ni
description Background To investigate the relationship between unexplained indirect hyperbilirubinemia of Vietnamese newborns and the polymorphism of the promoter TATA box and exon 1 of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene. Methods A total of 149 neonates were divided into the hyperbilirubinemia group ( n  = 99) and control group ( n  = 50). The gene polymorphisms of UGT1A1 gene in the two groups were detected by PCR and direct sequencing, which revealed the relationship between UGT1A1 polymorphism with neonatal hyperbilirubinemia of neonates. The types of UGT1A1 polymorphism in the hyperbilirubinemia group and the peak total serum bilirubin (PSB) levels with different genotypes were observed. Results (1) (TA)7 insertion mutation, 211G>A, 189C>T, 190G>A, 378C>T and 686C>A were detected. (2) The allele frequency of 211G>A allele mutation was significantly different between the two groups ( p  A were both significantly associated with neonatal hyperbilirubinemia. (4) In the hyperbilirubinemia group, the peak total serum bilirubin level of 211G>A homozygous neonates was higher than that of the wild-type neonates ( p  A. In addition, the homozygous 211G>A polymorphism was related to the degree of hyperbilirubinemia. Impact Our article provided data on UGT1A1 polymorphism distribution in the Vietnamese population, which have not been reported yet. Our findings revealed that mutations in UGT1A1 gene are risk factors for unexplained hyperbilirubinemia in Vietnamese neonates. Our article will strengthen the cognition of neonatal jaundice at the genetic level in the pediatric field in Vietnam.
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Methods A total of 149 neonates were divided into the hyperbilirubinemia group ( n  = 99) and control group ( n  = 50). The gene polymorphisms of UGT1A1 gene in the two groups were detected by PCR and direct sequencing, which revealed the relationship between UGT1A1 polymorphism with neonatal hyperbilirubinemia of neonates. The types of UGT1A1 polymorphism in the hyperbilirubinemia group and the peak total serum bilirubin (PSB) levels with different genotypes were observed. Results (1) (TA)7 insertion mutation, 211G&gt;A, 189C&gt;T, 190G&gt;A, 378C&gt;T and 686C&gt;A were detected. (2) The allele frequency of 211G&gt;A allele mutation was significantly different between the two groups ( p  &lt; 0.05). (3) Logistic regression analysis showed that homozygosity and heterozygosity of 211G&gt;A were both significantly associated with neonatal hyperbilirubinemia. (4) In the hyperbilirubinemia group, the peak total serum bilirubin level of 211G&gt;A homozygous neonates was higher than that of the wild-type neonates ( p  &lt; 0.05). Conclusions We noted that there was an association between neonates with unexplained indirect hyperbilirubinemia in Vietnam and the polymorphism of UGT1A1c.211G&gt;A. In addition, the homozygous 211G&gt;A polymorphism was related to the degree of hyperbilirubinemia. Impact Our article provided data on UGT1A1 polymorphism distribution in the Vietnamese population, which have not been reported yet. Our findings revealed that mutations in UGT1A1 gene are risk factors for unexplained hyperbilirubinemia in Vietnamese neonates. Our article will strengthen the cognition of neonatal jaundice at the genetic level in the pediatric field in Vietnam.</description><identifier>ISSN: 0031-3998</identifier><identifier>EISSN: 1530-0447</identifier><identifier>DOI: 10.1038/s41390-020-0825-6</identifier><identifier>PMID: 32126570</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Medicine ; Medicine &amp; Public Health ; Mutation ; Pediatric Surgery ; Pediatrics ; Polymorphism ; Population Study Article</subject><ispartof>Pediatric research, 2020-12, Vol.88 (6), p.940-944</ispartof><rights>International Pediatric Research Foundation, Inc 2020</rights><rights>International Pediatric Research Foundation, Inc 2020.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c438t-261ac893a590fc2cff3ddef04d42720e04e4fbee1f79bdca846a7c7e36c073763</citedby><cites>FETCH-LOGICAL-c438t-261ac893a590fc2cff3ddef04d42720e04e4fbee1f79bdca846a7c7e36c073763</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32126570$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nguyen, Tien-Thanh</creatorcontrib><creatorcontrib>Zhao, Wei</creatorcontrib><creatorcontrib>Yang, Xi</creatorcontrib><creatorcontrib>Zhong, Dan-Ni</creatorcontrib><title>The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns</title><title>Pediatric research</title><addtitle>Pediatr Res</addtitle><addtitle>Pediatr Res</addtitle><description>Background To investigate the relationship between unexplained indirect hyperbilirubinemia of Vietnamese newborns and the polymorphism of the promoter TATA box and exon 1 of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene. Methods A total of 149 neonates were divided into the hyperbilirubinemia group ( n  = 99) and control group ( n  = 50). The gene polymorphisms of UGT1A1 gene in the two groups were detected by PCR and direct sequencing, which revealed the relationship between UGT1A1 polymorphism with neonatal hyperbilirubinemia of neonates. The types of UGT1A1 polymorphism in the hyperbilirubinemia group and the peak total serum bilirubin (PSB) levels with different genotypes were observed. Results (1) (TA)7 insertion mutation, 211G&gt;A, 189C&gt;T, 190G&gt;A, 378C&gt;T and 686C&gt;A were detected. (2) The allele frequency of 211G&gt;A allele mutation was significantly different between the two groups ( p  &lt; 0.05). (3) Logistic regression analysis showed that homozygosity and heterozygosity of 211G&gt;A were both significantly associated with neonatal hyperbilirubinemia. (4) In the hyperbilirubinemia group, the peak total serum bilirubin level of 211G&gt;A homozygous neonates was higher than that of the wild-type neonates ( p  &lt; 0.05). Conclusions We noted that there was an association between neonates with unexplained indirect hyperbilirubinemia in Vietnam and the polymorphism of UGT1A1c.211G&gt;A. In addition, the homozygous 211G&gt;A polymorphism was related to the degree of hyperbilirubinemia. Impact Our article provided data on UGT1A1 polymorphism distribution in the Vietnamese population, which have not been reported yet. Our findings revealed that mutations in UGT1A1 gene are risk factors for unexplained hyperbilirubinemia in Vietnamese neonates. Our article will strengthen the cognition of neonatal jaundice at the genetic level in the pediatric field in Vietnam.</description><subject>Medicine</subject><subject>Medicine &amp; Public Health</subject><subject>Mutation</subject><subject>Pediatric Surgery</subject><subject>Pediatrics</subject><subject>Polymorphism</subject><subject>Population Study Article</subject><issn>0031-3998</issn><issn>1530-0447</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kc1q3DAUhUVpaKZpH6CbIugmGzf6s2UvQ2imgUA2M9kKWb6aUbAlR7JJ5gX63NFkpg0EuhDi6n7n6F4OQt8o-UkJry-SoLwhBWH51Kwsqg9oQUueKyHkR7QghNOCN019ij6n9EAIFWUtPqFTziirSkkW6M9qCzhCrycXfNq6EbcwPQF4vN2NEFvXuzi3zsPgNNa-w1PmxxiGMEHMwk2Wvb5bF9OE4TmXweL1ckUvKd6Az3Tod0OI49alIWHn8b2DyesBEmAPT22IPn1BJ1b3Cb4e7zO0vv61uvpd3N4tb64ubwsjeD0VrKLa1A3XZUOsYcZa3nVgiegEk4wAESBsC0CtbNrO6FpUWhoJvDJEclnxM3R-8M0rPM6QJjW4ZKDvtYcwJ8W4pFSIWoqM_niHPoQ5-jydYkJyJqloykzRA2ViSCmCVWN0g447RYnah6QOIakcktqHpPZDfD86z-0A3T_F31QywA5Ayi2_gfj29f9dXwDHP57M</recordid><startdate>20201201</startdate><enddate>20201201</enddate><creator>Nguyen, Tien-Thanh</creator><creator>Zhao, Wei</creator><creator>Yang, Xi</creator><creator>Zhong, Dan-Ni</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>20201201</creationdate><title>The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns</title><author>Nguyen, Tien-Thanh ; Zhao, Wei ; Yang, Xi ; Zhong, Dan-Ni</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c438t-261ac893a590fc2cff3ddef04d42720e04e4fbee1f79bdca846a7c7e36c073763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Medicine</topic><topic>Medicine &amp; Public Health</topic><topic>Mutation</topic><topic>Pediatric Surgery</topic><topic>Pediatrics</topic><topic>Polymorphism</topic><topic>Population Study Article</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nguyen, Tien-Thanh</creatorcontrib><creatorcontrib>Zhao, Wei</creatorcontrib><creatorcontrib>Yang, Xi</creatorcontrib><creatorcontrib>Zhong, Dan-Ni</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nguyen, Tien-Thanh</au><au>Zhao, Wei</au><au>Yang, Xi</au><au>Zhong, Dan-Ni</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns</atitle><jtitle>Pediatric research</jtitle><stitle>Pediatr Res</stitle><addtitle>Pediatr Res</addtitle><date>2020-12-01</date><risdate>2020</risdate><volume>88</volume><issue>6</issue><spage>940</spage><epage>944</epage><pages>940-944</pages><issn>0031-3998</issn><eissn>1530-0447</eissn><abstract>Background To investigate the relationship between unexplained indirect hyperbilirubinemia of Vietnamese newborns and the polymorphism of the promoter TATA box and exon 1 of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) gene. Methods A total of 149 neonates were divided into the hyperbilirubinemia group ( n  = 99) and control group ( n  = 50). The gene polymorphisms of UGT1A1 gene in the two groups were detected by PCR and direct sequencing, which revealed the relationship between UGT1A1 polymorphism with neonatal hyperbilirubinemia of neonates. The types of UGT1A1 polymorphism in the hyperbilirubinemia group and the peak total serum bilirubin (PSB) levels with different genotypes were observed. Results (1) (TA)7 insertion mutation, 211G&gt;A, 189C&gt;T, 190G&gt;A, 378C&gt;T and 686C&gt;A were detected. (2) The allele frequency of 211G&gt;A allele mutation was significantly different between the two groups ( p  &lt; 0.05). (3) Logistic regression analysis showed that homozygosity and heterozygosity of 211G&gt;A were both significantly associated with neonatal hyperbilirubinemia. (4) In the hyperbilirubinemia group, the peak total serum bilirubin level of 211G&gt;A homozygous neonates was higher than that of the wild-type neonates ( p  &lt; 0.05). Conclusions We noted that there was an association between neonates with unexplained indirect hyperbilirubinemia in Vietnam and the polymorphism of UGT1A1c.211G&gt;A. In addition, the homozygous 211G&gt;A polymorphism was related to the degree of hyperbilirubinemia. Impact Our article provided data on UGT1A1 polymorphism distribution in the Vietnamese population, which have not been reported yet. Our findings revealed that mutations in UGT1A1 gene are risk factors for unexplained hyperbilirubinemia in Vietnamese neonates. Our article will strengthen the cognition of neonatal jaundice at the genetic level in the pediatric field in Vietnam.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>32126570</pmid><doi>10.1038/s41390-020-0825-6</doi><tpages>5</tpages></addata></record>
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subjects Medicine
Medicine & Public Health
Mutation
Pediatric Surgery
Pediatrics
Polymorphism
Population Study Article
title The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns
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