Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice

Roy‐Chowdhury, Namita; Deocharan, Bisram; Bejjanki, HR; Roy‐Chowdhury, Jayanta; Koliopoulos, C; Petmezaki, Sophia; Valaes, Timos

doi:10.1080/080352502753458058

Cited by 14 publications

(3 citation statements)

References 5 publications

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“…Regardless of feeding method, infants who are homozygous for an UGT 1A1 mutation have been found to have subtle elevations in bilirubin levels in the first week of life 28 29. In addition, the presence of an UGT 1A1 mutation may exacerbate neonatal hyperbilirubinaemia in infants with G6PD deficiency, ABO incompatibility or hereditary spherocytosis 30–32…”

Section: Pathological Causes Of Prolonged Unconjugated Hyperbilirubinmentioning

confidence: 99%

Understanding and managing breast milk jaundice

Preer

Philipp

2010

Archives of Disease in Childhood - Fetal and Neonatal Edition

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The breastfed infant with prolonged unconjugated hyperbilirubinaemia can present a vexing clinical dilemma. Although it is a frequently observed and usually benign finding, prolonged jaundice in the breastfed newborn requires a thoughtful evaluation that excludes possible pathological aetiologies. While recommendations for the treatment of unconjugated hyperbilirubinaemia in the first 7 days of life are straightforward, the approach to the breastfeeding infant with jaundice that persists beyond the immediate neonatal period is less clearly delineated. A sound understanding of bilirubin physiology and familiarity with current literature must guide the management of the otherwise well breastfeeding infant with prolonged unconjugated hyperbilirubinaemia.

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Section: Pathological Causes Of Prolonged Unconjugated Hyperbilirubinmentioning

confidence: 99%

Understanding and managing breast milk jaundice

Preer

Philipp

2010

Archives of Disease in Childhood - Fetal and Neonatal Edition

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“…The UGT1A1 is related to autosomal recessive indirect hyperbilirubinemia syndromes. While some authors report the association of this polymorphism with mild-to-moderate neonatal hyperbilirubinemia ( Roy-Chowdhury et al, 2002 ; Agrawal et al, 2009 ), others have failed to demonstrate its clinical significance alone on jaundice risk ( Ülgenalp et al, 2003 ; Watchko and Lin, 2010 ). Nevertheless, the combination of the TA6/TA7 genotype with other icterogenic conditions, such as hemoglobinopathies, may increase the risk for hyperbilirubinemia ( Watchko and Lin, 2010 ) and may play an additional role in the pathogenesis of hemolytic neonatal hyperbilirubinemia ( Yang et al, 2021 ) by interfering with the bilirubin clearance pathway.…”

Section: Discussionmentioning

confidence: 99%

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

Salinas-Marín

Murakami²,

González-Domínguez³

et al. 2022

Front. Genet.

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A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we show the first PIGA-CDG case reported in Mexico in a male child with a moderate-to-severe phenotype characterized by neurological and gastrointestinal symptoms, including megacolon. Exome sequencing identified the hemizygous variant PIGA c.145G>A (p.Val49Met), confirmed by Sanger sequencing and characterized as de novo. The pathogenicity of this variant was characterized by flow cytometry and complementation assays in PIGA knockout (KO) cells.

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“…The data strongly suggest that UGT1A1 promoter (TA)7 polymorphism influences serum total bilirubin values by increasing heme catabolism as well as decreasing bilirubin conjugation [ 23 ]. In analogous studies, the (TA)7 variant was associated with modestly higher total serum bilirubin levels and (TA)7 polymorphism in the promoter developed prolonged indirect hyperbilirubinemia [ 7 , 47 , 48 ]. However, some other studies have failed to demonstrate a clinically significant effect of UGT1A1 TATA promoter variations on hyperbilirubinemia risk [ 23 , 49 ], such as a southern Brazil study that found the (TA)7 promoter polymorphism of UGT1A1 had no association with hyperbilirubinemia [ 50 ].…”

Section: Discussionmentioning

confidence: 99%

Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis

Zhu

Wang

et al. 2015

Med Sci Monit

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BackgroundThe results of studies on association between the polymorphisms in the coding region and the promoter of uridine diphosphateglucuronosyl transferase 1A1 (UGT1A1) and neonatal hyperbilirubinemia are controversial. This study aimed to determine whether the UGT1A1 gene polymorphisms of Gly71Arg and TATA promoter were significant risk factors associated with neonatal hyperbilirubinemia.Material/MethodsThe PubMed, Cochrane Library, and Embase databases were searched for papers that describe the association between UGT1A1 polymorphisms and neonatal hyperbilirubinemia. Summary odds ratios and 95% confidence intervals (CI) were estimated based on a fixed-effects model or random-effects model, depending on the absence or presence of significant heterogeneity.ResultsA total of 32 eligible studies and 6520 participants were identified. Among them, 24 studies focused on the association of neonatal hyperbilirubinemia with UGT1A1 Gly71Arg polymorphisms, and a significant difference was found for the comparison of AA vs. AG+GG (OR=3.47, 95% CI=2.29–5.28, P<0.0001). We included 19 studies on the association of neonatal hyperbilirubinemia with UGT1A1 TATA promoter polymorphism, which also found a statistically significant difference between 7/7 and 6/7 + 6/6 (OR=2.24, 95% CI=1.29–3.92, P=0.004).ConclusionsThis meta-analysis demonstrated that UGT1A1 polymorphisms (Gly71Arg and TATA promoter) significantly increase the risk of neonatal hyperbilirubinemia.

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Presence of the genetic marker for Gilbert syndrome is associated with increased level and duration of neonatal jaundice

Cited by 14 publications

References 5 publications

Understanding and managing breast milk jaundice

Understanding and managing breast milk jaundice

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis

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