Please use this identifier to cite or link to this item:
https://hdl.handle.net/11499/9200
Full metadata record
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.grantfulltext | none | - |
item.languageiso639-1 | en | - |
item.fulltext | No Fulltext | - |
item.openairetype | Article | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
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 |
CORE Recommender
SCOPUSTM
Citations
10
checked on Oct 13, 2024
WEB OF SCIENCETM
Citations
9
checked on Oct 22, 2024
Page view(s)
60
checked on Aug 24, 2024
Google ScholarTM
Check
Altmetric
Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.