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https://hdl.handle.net/11499/9200
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DC Field | Value | Language |
---|---|---|
dc.contributor.author | Halis, Hülya | - |
dc.contributor.author | Ergin, Hacer | - |
dc.contributor.author | Köseler, Aylin | - |
dc.contributor.author | Atalay, Erol Ömer | - |
dc.date.accessioned | 2019-08-16T12:58:54Z | - |
dc.date.available | 2019-08-16T12:58:54Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1476-7058 | - |
dc.identifier.uri | https://hdl.handle.net/11499/9200 | - |
dc.identifier.uri | https://doi.org/10.1080/14767058.2016.1261105 | - |
dc.description.abstract | Objective: In the present study, we investigated the effects of promoter polymorphism and an exon-1 mutation (G71R) in the UGT1A1 gene in neonates with unexplained hyperbilirubinemia and direct Coombs-negative [DC(-)] ABO incompatibility. Methods: Two-hundred term neonates in their first week of life and without additional icterogenic factors were included in the study. Neonates with a serum total bilirubin (STB) level ?17 mg/dL constituted the hyperbilirubinemia group (n = 100), while the control group comprised healthy neonates with a STB level <12.9 mg/dL (n = 100). The cases were further subdivided into unexplained hyperbilirubinemia (n = 50), ABO(+) hyperbilirubinemia (n = 50), ABO(-) control (n = 50), and ABO(+) control (n = 50) groups on the basis of the presence or absence of DC(-) ABO incompatibility. DNA was isolated from peripheral blood and amplified by PCR, and UGT1A1 gene promoter and exon-1 were sequenced to verify sequence alterations. Results: The frequency of TA6/6, TA6/7, TA7/7, and GGA/GGA, GGA/AGA, AGA/AGA genotypes was found to be 63.5%, 21%, 15.5%, and 91.5%, 8%, 0.5%, respectively. While both heterozygous and homozygous TA7 polymorphism increased risk of hyperbilirubinemia in the ABO(+) hyperbilirubinemia group (heterozygous OR 16.76, 95% CI:3.52-79.70, p < 0.0001; homozygous OR 6.81, 95% CI:1.98-23:42, p = 0.002), only heterozygous TA7 polymorphism increased jaundice risk (OR 5.0895% CI:76-14.65, p = 0.003) in unexplained hyperbilirubinemia. But, the coexistence of G71R mutation and promoter polymorphism or G71R mutation and DC(-) ABO incompatibility did not increase the severity of hyperbilirubinemia (p > 0.05). Conclusions: UGT1A1 gene promoter polymorphism and G71R mutation are possible risk factors for Turkish neonates with DC(-) ABO incompatibility and unexplained hyperbilirubinemia. © 2017 Informa UK Limited, trading as Taylor & Francis Group. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Taylor and Francis Ltd | en_US |
dc.relation.ispartof | Journal of Maternal-Fetal and Neonatal Medicine | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Exon-1 mutation | en_US |
dc.subject | Hyperbilirubinemia | en_US |
dc.subject | Promoter polymorphism | en_US |
dc.subject | adenine | en_US |
dc.subject | bilirubin | en_US |
dc.subject | DNA | en_US |
dc.subject | glucuronosyltransferase 1A1 | en_US |
dc.subject | guanine | en_US |
dc.subject | glucuronosyltransferase | en_US |
dc.subject | UGT1A1 enzyme | en_US |
dc.subject | Article | en_US |
dc.subject | bilirubin blood level | en_US |
dc.subject | blood group ABO incompatibility | en_US |
dc.subject | controlled study | en_US |
dc.subject | disease severity | en_US |
dc.subject | DNA polymorphism | en_US |
dc.subject | exon | en_US |
dc.subject | female | en_US |
dc.subject | gene frequency | en_US |
dc.subject | gene function | en_US |
dc.subject | gene mutation | en_US |
dc.subject | gene sequence | en_US |
dc.subject | genotype | en_US |
dc.subject | gestational age | en_US |
dc.subject | heterozygote | en_US |
dc.subject | homozygote | en_US |
dc.subject | human | en_US |
dc.subject | major clinical study | en_US |
dc.subject | male | en_US |
dc.subject | neonatal hyperbilirubinemia | en_US |
dc.subject | newborn | en_US |
dc.subject | newborn jaundice | en_US |
dc.subject | polymerase chain reaction | en_US |
dc.subject | priority journal | en_US |
dc.subject | promoter region | en_US |
dc.subject | Turk (people) | en_US |
dc.subject | UGT1A1 gene | en_US |
dc.subject | blood | en_US |
dc.subject | blood group ABO system | en_US |
dc.subject | blood group incompatibility | en_US |
dc.subject | case control study | en_US |
dc.subject | genetic polymorphism | en_US |
dc.subject | genetic predisposition | en_US |
dc.subject | genetics | en_US |
dc.subject | immunology | en_US |
dc.subject | mutation | en_US |
dc.subject | pregnancy | en_US |
dc.subject | ABO Blood-Group System | en_US |
dc.subject | Blood Group Incompatibility | en_US |
dc.subject | Case-Control Studies | en_US |
dc.subject | Exons | en_US |
dc.subject | Female | en_US |
dc.subject | Genetic Predisposition to Disease | en_US |
dc.subject | Gestational Age | en_US |
dc.subject | Glucuronosyltransferase | en_US |
dc.subject | Humans | en_US |
dc.subject | Hyperbilirubinemia, Neonatal | en_US |
dc.subject | Infant, Newborn | en_US |
dc.subject | Jaundice, Neonatal | en_US |
dc.subject | Male | en_US |
dc.subject | Mutation | en_US |
dc.subject | Polymorphism, Genetic | en_US |
dc.subject | Pregnancy | en_US |
dc.subject | Promoter Regions, Genetic | en_US |
dc.subject | Turkey | en_US |
dc.title | The role of UGT1A1 promoter polymorphism and exon-1 mutations in neonatal jaundice | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 30 | en_US |
dc.identifier.issue | 22 | en_US |
dc.identifier.startpage | 2658 | - |
dc.identifier.startpage | 2658 | en_US |
dc.identifier.endpage | 2664 | en_US |
dc.authorid | 0000-0003-4832-0436 | - |
dc.authorid | 36835035474 | - |
dc.authorid | 0000-0001-6272-9380 | - |
dc.identifier.doi | 10.1080/14767058.2016.1261105 | - |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.pmid | 27842454 | en_US |
dc.identifier.scopus | 2-s2.0-85011798892 | en_US |
dc.identifier.wos | WOS:000417425800003 | en_US |
dc.identifier.scopusquality | Q2 | - |
dc.owner | Pamukkale University | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | Article | - |
item.fulltext | No Fulltext | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | 14.02. Internal Medicine | - |
crisitem.author.dept | 14.02. Internal Medicine | - |
crisitem.author.dept | 14.03. Basic Medical Sciences | - |
crisitem.author.dept | 14.03. Basic Medical Sciences | - |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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