Correlation of<i>UGT1A1</i>TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert's syndrome

Žaja, Orjena; Tiljak, Mirjana Kujundžić; Štefanović, Mario; Tumbri, Jasna; Jurčić, Zvonko

doi:10.3109/14767058.2013.837879

Cited by 13 publications

(5 citation statements)

References 44 publications

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“…Currently, the correlation between UGT1A1 polymorphisms and risk of neonatal hyperbilirubinemia mainly focuses on the TATA box in the promoter region and the coding region [ 27 , 28 ]. It was reported that the coding region mutation of the UGT1A1 gene was highly prevalent in Asia, with G211A as the predominant type of mutations [ 29 , 30 ].…”

Section: Discussionmentioning

confidence: 99%

Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study

Zhou

Yang

Zhu

et al. 2018

BioMed Research International

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To date, the genetic risk factors for neonatal hyperbilirubinemia remain unknown in Southeastern China. This case-control study aimed to identify the genetic risk factors for neonatal hyperbilirubinemia in Fujian, Southeastern China. A total of 286 hyperbilirubinemic newborns were enrolled as a case group, and 250 randomly selected newborns without jaundice or with a bilirubin level that was lower than the threshold required for phototherapy served as controls. The serum levels of total bilirubin, unconjugated bilirubin, and direct bilirubin were measured, and the common genetic loci in UGT1A1, OATP1B1, and HO-1 genes were genotyped. Higher incidence of ABO incompatibility and G6PD deficiency was detected in the case group compared to the control group (P < 0.01). There were significant differences in the frequencies of rs4148323 and rs1805173 genotypes between the case and control groups (P < 0.05). At the rs4148323 locus, the frequencies of GA heterozygotes and AA mutant homozygotes were higher in the case group than in the control group (P < 0.05), and at the rs1805173 locus, the frequencies of LS, MS, and SS genotypes were higher in the case group than in the control group (P < 0.05). A higher frequency of rs4148323 A allele and rs1805173 S allele was detected in the case group compared to the control group (P = 0). Additionally, multivariate logistic regression analysis identified that the mutant genotype of rs4148323 in the UGT1A1 gene, ABO incompatibility, G6PD deficiency, and SS genotype at rs1805173 locus of the HO-1 gene were genetic risk factors of neonatal hyperbilirubinemia. Our data demonstrate that G211 mutation in the UGT1A1 gene, ABO incompatibility, G6PD deficiency, and the SS genotype of the repeats in the promoter region of the HO-1 gene are risk factors for neonatal hyperbilirubinemia in Fujian, Southeastern China.

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Section: Discussionmentioning

confidence: 99%

Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study

Zhou

Yang

Zhu

et al. 2018

BioMed Research International

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“…However, the clinical significance of this finding remains unclear as the infants in these studies had either subclinical or only mild/moderate hyperbilirubinemia (27). GS has also been associated with the jaundice of inadequate breastfeeding with weight loss (“breastfeeding jaundice”) (42,43) and with breast milk jaundice (see Breast milk jaundice ) (44,45). …”

Section: Inherited Disorders Of Bilirubin Clearancementioning

confidence: 99%

Inherited disorders of bilirubin clearance

et al. 2015

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Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective 1) unconjugated bilirubin uptake and intrahepatic storage, 2) conjugation of glucuronic acid to bilirubin (e.g. Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), 3) bilirubin excretion into bile (Dubin-Johnson syndrome), or 4) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.

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“…Neonatal jaundice is associated with a variety of physiologic and pathologic conditions 1 . Gene variants involving the production and metabolism of bilirubin are risk factors of neonatal jaundice – including glucose-6-phosphate dehydrogenase (G6PD) 2 , blood group 3 , heme oxygenase (HO)−1 4 , hepatic solute carrier organic anion transporter 1B1 (SLCO1B1) 5 , and UDP-glucuronosyltransferase 1A1 (UGT1A1) 6 , 7 .…”

Section: Introductionmentioning

confidence: 99%

Risk assessment of prolonged jaundice in infants at one month of age: A prospective cohort study

Weng

Cheng

Yang

et al. 2018

Sci Rep

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Prolonged jaundice is a commonly evaluated condition. The aim of this study was to assess the risk factors of jaundice in healthy infants at one month of age. This prospective cohort study enrolled 509 healthy infants from 2013 to 2018. Those with gestational age (GA) less than 35 weeks, birth weight less than 2000 grams, and illness were not enrolled. Jaundice was defined as a transcutaneous bilirubin value ≥5 mg/dL at 25–45 days of age. Umbilical cord blood samples were obtained to examine seven common gene variants. The incidence of prolonged jaundice was 32.2%. Prolonged jaundice was more common in infants with exclusive breastfeeding (p < 0.001), GA 35~37 w (p = 0.001), stool passage >4 times/d (p < 0.001), previous phototherapy (p < 0.001), and gene variant of G to A at nt 211 of UGT1A1 (p = 0.004). A multivariate logistic regression analysis demonstrated the greatest risk for prolonged jaundice was exclusive breastfeeding (OR = 2.818, 95% CI = 1.851–4.292), followed by previous phototherapy (OR = 2.593, 95% CI = 1.716–3.919), GA 35~37 w (OR = 2.468, 95% CI = 1.350–4.512), and G to A at nt 211 of UGT1A1 (OR = 1.645, 95% CI = 1.070–2.528). In conclusion, infants with exclusive breastfeeding, GA 35~37 w, previous phototherapy, or G to A at nt 211 of UGT1A1 are at greater risk of prolonged jaundice. Healthcare professionals should consider these risk factors in their assessment of prolonged jaundice.

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Correlation ofUGT1A1TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert's syndrome

Cited by 13 publications

References 44 publications

Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study

Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study

Inherited disorders of bilirubin clearance

Risk assessment of prolonged jaundice in infants at one month of age: A prospective cohort study

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