Understanding neonatal hyperbilirubinaemia in the era of genomics

Watchko, Jon F.; Daood, Monica J.; Biniwale, Manoj

doi:10.1053/siny.2002.0102

Cited by 56 publications

(40 citation statements)

References 52 publications

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“…Ritter et al (2) first discovered that UGT1A1 gene product shows glucuronosyltransferase activity. UGT1A1 is located at chromosome 2q37 (3), and includes five exons (exons [1][2][3][4][5]. The promoter region is close to the upstream of the transcription start site of exon 1, including the TATA-box.…”

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confidence: 99%

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

Zhong

Xie

et al. 2015

Pediatr Res

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Articles Population Study nature publishing groupBackground: Uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene mutation was shown to be responsible for neonatal hyperbilirubinemia. This study aimed to investigate whether UGT1A1 gene mutation is associated with neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations. Methods: Two hundred and eighteen infants with hyperbilirubinemia (118 Heiyi Zhuang, 100 Han) and 190 control subjects (110 Heiyi Zhuang, 80 Han) were enrolled. Polymerase chain reaction and gene sequencing were used to detect the TATA-box and exon 1 of UGT1A1. results: (TA)7 insertion mutation, 211G>A (G71R), 686C>A (P229Q), and 189C>T (D63D) were detected. Logistic regression analysis showed odds ratios (OR) of 2.64 (95% confidence interval (CI) 1.64-4.24; P < 0.001) and 0.69 (95%CI 0.43-1.10; P = 0.115) for neonates who carried UGT1A1 G71R and (TA)7 insertion mutation, respectively. G71R homozygosity increased the odds of dangerous bilirubin levels by a factor 34.23, and G71R heterozygosity only by 2.10. conclusion: We found that UGT1A1 G71R mutation is a risk factor for neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations. Meanwhile, the UGT1A1 (TA)7 insertion mutation is not associated with neonatal hyperbilirubinemia in the two ethnic groups.

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confidence: 99%

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

Zhong

Xie

et al. 2015

Pediatr Res

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“…13,18 The association between the UGT1A1*28 allele and the development of extreme hyperbilirubinemia has not been studied, and a call for such studies has been made in recent international reviews. 13,19,20 Hence, we investigated the relationship between UGT1A1*28 genotypes and extreme hyperbilirubinemia in a casecontrol design, encompassing all incident cases in Denmark from 2000 to 2007.…”

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confidence: 99%

Extreme Neonatal Hyperbilirubinemia and a Specific Genotype: A Population-Based Case-Control Study

Petersen

Henriksen²,

Hollegaard

et al. 2014

Pediatrics

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WHAT'S KNOWN ON THIS SUBJECT: For newborn infants, extreme hyperbilirubinemia ($24.5 mg/dL) is associated with risk for severe bilirubin encephalopathy. The causal factor of extreme hyperbilirubinemia is often not established. The genotype of Gilbert syndrome, the UGT1A1*28 allele, is considered a potential risk factor. WHAT THIS STUDY ADDS:The UGT1A1*28 allele was not associated with risk for developing extreme hyperbilirubinemia. abstract OBJECTIVES: Extreme hyperbilirubinemia (plasma bilirubin $24.5 mg/dL) is an important risk factor for severe bilirubin encephalopathy. Several risk factors for hyperbilirubinemia are known, but in a large number of patients, a causal factor is never established. UGT1A1 is the rate-limiting enzyme in bilirubin' s metabolism. The genotype of Gilbert syndrome, the UGT1A1*28 allele, causes markedly reduced activity of this enzyme, but its association with neonatal hyperbilirubinemia is uncertain and its relationship with extreme hyperbilirubinemia has not been studied. We examined whether the UGT1A1*28 allele is associated with extreme hyperbilirubinemia. METHODS:The UGT1A1*28 allele was assessed in a case-control study of 231 white infants who had extreme hyperbilirubinemia in Denmark from 2000 to 2007 and 432 white controls. Cases were identified in the Danish Extreme Hyperbilirubinemia Database that covers the entire population. Genotypes were obtained through the Danish Neonatal Screening Biobank. Subgroup analysis was done for AB0 incompatible cases. RESULTS:No association was found between the UGT1A1*28 allele and extreme hyperbilirubinemia. With the common genotype as reference, the odds ratio of extreme hyperbilirubinemia was 0.87 (range, 0.68-1.13) for UGT1A1*28 heterozygotes and 0.77 (range, 0.46-1.27) for homozygotes. Also, no association was found for AB0 incompatible cases.

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“…The results of Huang and coworkers lend further credence to the important role UDP-GT1A1 gene mutations play in the genesis of neonatal jaundice, the so called indirect hyperbilirubinemia syndromes (10,11). These include the wellcharacterized UDP-GT1A1 coding sequence mutations of the Crigler-Najjar type I [nonsense or stop mutations] and II [missense mutation] (Arias) syndromes, as well as the UDP-GT1A1 promoter sequence mutations of Gilbert's syndrome.…”

Section: Genetics Of Bilirubin Conjugation and Neonatal Hyperbilirubimentioning

confidence: 90%

“…Of great interest in the current study is the dramatic effect combined OATP-2 and UDP-GT1A1 G71R mutations has on neonatal jaundice and provides another compelling example of dose dependent genetic interactions that enhance the development of marked neonatal hyperbilirubinemia (10,11). These phenomena are analogous to that observed in Western infants with 1) combined Gilbert genotype and G6PD deficiency, 2) combined Gilbert genotype and hereditary spherocytosis, and 3) compound heterozygosity for the Gilbert genotype and UDP-GT1A1 coding sequence mutations, in increasing the risk for neonatal hyperbilirubinemia (10,11) and even kernicterus (14). This growing body of literature underscores the importance of increasing our understanding of the biology of neonatal hyperbilirubinemia at the molecular level.…”

Section: Genetics Of Bilirubin Conjugation and Neonatal Hyperbilirubimentioning

confidence: 99%

Genetics and the Risk of Neonatal Hyperbilirubinemia: Commentary on the article by Huang et al. on page 682

Watchko

2004

Pediatr Res

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Understanding neonatal hyperbilirubinaemia in the era of genomics

Cited by 56 publications

References 52 publications

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations

Extreme Neonatal Hyperbilirubinemia and a Specific Genotype: A Population-Based Case-Control Study

Genetics and the Risk of Neonatal Hyperbilirubinemia: Commentary on the article by Huang et al. on page 682

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