Back to Search
Start Over
UGT1A1 Mutation Association with Increased Bilirubin Levels and Severity of Unconjugated Hyperbilirubinemia in ABO Incompatible Newborns of China
- Source :
- BMC Pediatrics, BMC Pediatrics, Vol 21, Iss 1, Pp 1-8 (2021)
- Publication Year :
- 2021
- Publisher :
- Research Square Platform LLC, 2021.
-
Abstract
- BackgroundNeonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin to its nontoxic form.MethodA retrospective study was conducted to review clinical information of ABO hemolysis neonates (ABO HDN) admitted to the Department of Neonatology, referred for neonatal hyperbilirubinemia, in a large general hospital of southern China from 2011 to 2017. Variation status of UGT1A1 was determined by direct sequencing or genotype assays.ResultSixty-nine ABO HDNs were included into the final analysis. UGT1A1 c.211 G > A mutation (UGT1A1*6, p.Arg71Gly, rs4148323) was significantly associated with the increased bilirubin level in ABO HDNs, after adjusted by age, sex and feeding method (P = 0.019 for TBIL,P = 0.02 for IBIL). Moreover, heterozygous and/or homozygous UGT1A1 mutations in the coding sequence region were significantly associated with the increased risk of developing hazardous hyperbilirubinemia (as defined by TSB > 427 umol/L) as compared those with a normal UGT1A1 genotype (ORadj = 9.16, 95%CI 1.99–42.08,P = 0.002) in the study cohort.ConclusionUGT1A1 variant in coding region is actively involved in the pathogenesis of ABO hemolysis related neonatal hyperbilirubinemia. Genetic assessment of UGT1A1 may be useful for clinical diagnosis of neonatal unconjugated hyperbilirubinemia.
- Subjects :
- medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
China
Glucuronosyltransferase
Bilirubin
Population
Pediatrics
Gastroenterology
digestive system
RJ1-570
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
030225 pediatrics
Internal medicine
ABO blood group system
medicine
Humans
Neonatology
education
Unconjugated hyperbilirubinemia
Hyperbilirubinemia
Retrospective Studies
education.field_of_study
030219 obstetrics & reproductive medicine
biology
business.industry
Infant, Newborn
Jaundice
chemistry
Pediatrics, Perinatology and Child Health
Mutation
biology.protein
medicine.symptom
Hyperbilirubinemia, Neonatal
business
TBIL
Research Article
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- BMC Pediatrics, BMC Pediatrics, Vol 21, Iss 1, Pp 1-8 (2021)
- Accession number :
- edsair.doi.dedup.....b9fb182db67d400b9a7cdf24a7e5a9e6