Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/9200
Title: The role of UGT1A1 promoter polymorphism and exon-1 mutations in neonatal jaundice
Authors: Halis, Hülya
Ergin, Hacer
Köseler, Aylin
Atalay, Erol Ömer
Keywords: Exon-1 mutation
Hyperbilirubinemia
Promoter polymorphism
adenine
bilirubin
DNA
glucuronosyltransferase 1A1
guanine
glucuronosyltransferase
UGT1A1 enzyme
Article
bilirubin blood level
blood group ABO incompatibility
controlled study
disease severity
DNA polymorphism
exon
female
gene frequency
gene function
gene mutation
gene sequence
genotype
gestational age
heterozygote
homozygote
human
major clinical study
male
neonatal hyperbilirubinemia
newborn
newborn jaundice
polymerase chain reaction
priority journal
promoter region
Turk (people)
UGT1A1 gene
blood
blood group ABO system
blood group incompatibility
case control study
genetic polymorphism
genetic predisposition
genetics
immunology
mutation
pregnancy
ABO Blood-Group System
Blood Group Incompatibility
Case-Control Studies
Exons
Female
Genetic Predisposition to Disease
Gestational Age
Glucuronosyltransferase
Humans
Hyperbilirubinemia, Neonatal
Infant, Newborn
Jaundice, Neonatal
Male
Mutation
Polymorphism, Genetic
Pregnancy
Promoter Regions, Genetic
Turkey
Publisher: Taylor and Francis Ltd
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.
URI: https://hdl.handle.net/11499/9200
https://doi.org/10.1080/14767058.2016.1261105
ISSN: 1476-7058
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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