Severe Neonatal Hyperbilirubinemia and UGT1A1 Promoter Polymorphism
Objective To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia. Study design In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubine...
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| Veröffentlicht in: | The Journal of pediatrics 2014-07, Vol.165 (1), p.42-45 |
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| container_title | The Journal of pediatrics |
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| creator | Travan, Laura, MD, PhD Lega, Sara, MD Crovella, Sergio, MD, PhD Montico, Marcella, MSc Panontin, Elisa, MD Demarini, Sergio, MD |
| description | Objective To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia. Study design In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubinemia (defined as bilirubin level ≥20 mg/dL or 340 μmol/L) and 70 controls (bilirubin level |
| doi_str_mv | 10.1016/j.jpeds.2014.03.013 |
| format | Article |
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Study design In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubinemia (defined as bilirubin level ≥20 mg/dL or 340 μmol/L) and 70 controls (bilirubin level <12 mg/dL or 210 μmol/L) were enrolled. Both case and control subjects were full term newborns. Polymerase chain reaction analysis on blood spot was performed to determine the frequency of UGTA1A1 promoter polymorphisms in cases and controls. Results No statistical difference in the prevalence of UGTA1A1 gene variants was found between cases and controls ( P = 1). Thirteen infants homozygous for (TA)7 polymorphism associated with GS were in the case group (18.6%) and 14 in the control group (20.0%). A heterozygous group was also equally distributed between cases (44.3%) and controls (42.9%). No (TA)8 repeat was found in the 2 groups. Conclusions In our study population, GS polymorphism alone does not appear to play a major role in severe neonatal hyperbilirubinemia in neonates without signs of hemolysis.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2014.03.013</identifier><identifier>PMID: 24726540</identifier><language>eng</language><publisher>United States: Mosby, Inc</publisher><subject>Case-Control Studies ; Female ; Genotype ; Gilbert Disease - genetics ; Glucuronosyltransferase - genetics ; Humans ; Hyperbilirubinemia, Neonatal - genetics ; Infant, Newborn ; Male ; Pediatrics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Prevalence ; Promoter Regions, Genetic</subject><ispartof>The Journal of pediatrics, 2014-07, Vol.165 (1), p.42-45</ispartof><rights>Elsevier Inc.</rights><rights>2014 Elsevier Inc.</rights><rights>Copyright © 2014 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c484t-38c4c8e314010221689927e95d89819b534c9c847b36fc526dabc8b0ba2952c3</citedby><cites>FETCH-LOGICAL-c484t-38c4c8e314010221689927e95d89819b534c9c847b36fc526dabc8b0ba2952c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jpeds.2014.03.013$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,27923,27924,45994</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24726540$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Travan, Laura, MD, PhD</creatorcontrib><creatorcontrib>Lega, Sara, MD</creatorcontrib><creatorcontrib>Crovella, Sergio, MD, PhD</creatorcontrib><creatorcontrib>Montico, Marcella, MSc</creatorcontrib><creatorcontrib>Panontin, Elisa, MD</creatorcontrib><creatorcontrib>Demarini, Sergio, MD</creatorcontrib><title>Severe Neonatal Hyperbilirubinemia and UGT1A1 Promoter Polymorphism</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Objective To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia. Study design In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubinemia (defined as bilirubin level ≥20 mg/dL or 340 μmol/L) and 70 controls (bilirubin level <12 mg/dL or 210 μmol/L) were enrolled. Both case and control subjects were full term newborns. Polymerase chain reaction analysis on blood spot was performed to determine the frequency of UGTA1A1 promoter polymorphisms in cases and controls. Results No statistical difference in the prevalence of UGTA1A1 gene variants was found between cases and controls ( P = 1). Thirteen infants homozygous for (TA)7 polymorphism associated with GS were in the case group (18.6%) and 14 in the control group (20.0%). A heterozygous group was also equally distributed between cases (44.3%) and controls (42.9%). No (TA)8 repeat was found in the 2 groups. Conclusions In our study population, GS polymorphism alone does not appear to play a major role in severe neonatal hyperbilirubinemia in neonates without signs of hemolysis.</description><subject>Case-Control Studies</subject><subject>Female</subject><subject>Genotype</subject><subject>Gilbert Disease - genetics</subject><subject>Glucuronosyltransferase - genetics</subject><subject>Humans</subject><subject>Hyperbilirubinemia, Neonatal - genetics</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Pediatrics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Prevalence</subject><subject>Promoter Regions, Genetic</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU9P3DAQxa2KqizQT1AJ5cgl6fhPEvsAElq1UAm1SCxny3FmVadJHOwEab99vSxw6KWnmcN782Z-Q8gXCgUFWn3tim7CNhYMqCiAF0D5B7KioOq8kpwfkRUAYzkXdXVMTmLsAEAJgE_kmImaVaWAFVk_4DMGzH6iH81s-ux2N2FoXO_C0rgRB2cyM7bZ482GXtPsPvjBzxiye9_vBh-m3y4OZ-Tj1vQRP7_WU7L5_m2zvs3vft38WF_f5VZIMedcWmElciqApsVoJZViNaqylUpS1ZRcWGWlqBtebW3JqtY0VjbQGKZKZvkpuTiMnYJ_WjDOenDRYt-bEf0SNS0F5ZKVok5SfpDa4GMMuNVTcIMJO01B7-HpTr_A03t4GrhO8JLr_DVgaQZs3z1vtJLg8iDAdOWzw6CjdThabF1AO-vWu_8EXP3jt70bnTX9H9xh7PwSxgRQUx2ZBv2w_9_-fYlY6irK_wIZLpRG</recordid><startdate>20140701</startdate><enddate>20140701</enddate><creator>Travan, Laura, MD, PhD</creator><creator>Lega, Sara, MD</creator><creator>Crovella, Sergio, MD, PhD</creator><creator>Montico, Marcella, MSc</creator><creator>Panontin, Elisa, MD</creator><creator>Demarini, Sergio, MD</creator><general>Mosby, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20140701</creationdate><title>Severe Neonatal Hyperbilirubinemia and UGT1A1 Promoter Polymorphism</title><author>Travan, Laura, MD, PhD ; Lega, Sara, MD ; Crovella, Sergio, MD, PhD ; Montico, Marcella, MSc ; Panontin, Elisa, MD ; Demarini, Sergio, MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c484t-38c4c8e314010221689927e95d89819b534c9c847b36fc526dabc8b0ba2952c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Case-Control Studies</topic><topic>Female</topic><topic>Genotype</topic><topic>Gilbert Disease - genetics</topic><topic>Glucuronosyltransferase - genetics</topic><topic>Humans</topic><topic>Hyperbilirubinemia, Neonatal - genetics</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Pediatrics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Prevalence</topic><topic>Promoter Regions, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Travan, Laura, MD, PhD</creatorcontrib><creatorcontrib>Lega, Sara, MD</creatorcontrib><creatorcontrib>Crovella, Sergio, MD, PhD</creatorcontrib><creatorcontrib>Montico, Marcella, MSc</creatorcontrib><creatorcontrib>Panontin, Elisa, MD</creatorcontrib><creatorcontrib>Demarini, Sergio, MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Travan, Laura, MD, PhD</au><au>Lega, Sara, MD</au><au>Crovella, Sergio, MD, PhD</au><au>Montico, Marcella, MSc</au><au>Panontin, Elisa, MD</au><au>Demarini, Sergio, MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Severe Neonatal Hyperbilirubinemia and UGT1A1 Promoter Polymorphism</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2014-07-01</date><risdate>2014</risdate><volume>165</volume><issue>1</issue><spage>42</spage><epage>45</epage><pages>42-45</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><abstract>Objective To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia. Study design In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubinemia (defined as bilirubin level ≥20 mg/dL or 340 μmol/L) and 70 controls (bilirubin level <12 mg/dL or 210 μmol/L) were enrolled. Both case and control subjects were full term newborns. Polymerase chain reaction analysis on blood spot was performed to determine the frequency of UGTA1A1 promoter polymorphisms in cases and controls. Results No statistical difference in the prevalence of UGTA1A1 gene variants was found between cases and controls ( P = 1). Thirteen infants homozygous for (TA)7 polymorphism associated with GS were in the case group (18.6%) and 14 in the control group (20.0%). A heterozygous group was also equally distributed between cases (44.3%) and controls (42.9%). No (TA)8 repeat was found in the 2 groups. Conclusions In our study population, GS polymorphism alone does not appear to play a major role in severe neonatal hyperbilirubinemia in neonates without signs of hemolysis.</abstract><cop>United States</cop><pub>Mosby, Inc</pub><pmid>24726540</pmid><doi>10.1016/j.jpeds.2014.03.013</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Case-Control Studies Female Genotype Gilbert Disease - genetics Glucuronosyltransferase - genetics Humans Hyperbilirubinemia, Neonatal - genetics Infant, Newborn Male Pediatrics Polymerase Chain Reaction Polymorphism, Genetic Prevalence Promoter Regions, Genetic |
| title | Severe Neonatal Hyperbilirubinemia and UGT1A1 Promoter Polymorphism |
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