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Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia.
Gastroenterology. 2002 Jul; 123(1):127-33.G

Abstract

BACKGROUND & AIMS

Coinheritance of the A(TA)7TAA promoter variant in the uridine 5'-diphosphate-glucuronosyl transferase 1A1 (UGT1A1) gene and glucose-6-phosphate dehydrogenase (G6PD) deficiency is crucial to hyperbilirubinemia in white male neonates. A variation rate of 29.3% was determined within the coding region of the UGT1A1 gene in Taiwanese subjects, suggesting the hypothesis that this variation may influence incidence of hyperbilirubinemia in male neonates with G6PD deficiency.

METHODS

The full sequence of the UGT1A1 gene was identified for 212 G6PD-deficient and 232 control male neonates by using polymerase chain reaction (PCR).

RESULTS

Both study and control groups were divided into 5 subgroups according to their UGT1A1 genotypes. Most subjects carried G to A variation at nucleotide 211 for both genotypes of heterozygous variation within coding region and homozygous variation. No significant differences were noted for the frequencies of the 5 UGT1A1 genotypes, gestation age, and birth weight comparing the G6PD-deficient and control groups. The incidence of hyperbilirubinemia, however, was significantly higher for the study group than for the controls. This difference was noted only for the subgroup bearing the homozygous variant of the UGT1A1 gene. In the subgroup of homozygous variation, the serum bilirubin value was significantly higher for G6PD-deficient neonates than for controls. All 11 G6PD-deficient neonates with the homozygous 211 G to A variation suffered from hyperbilirubinemia.

CONCLUSIONS

The results indicate that carriage of the homozygous 211 G to A variation within the coding region in the UGT1A1 gene is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates.

Authors+Show Affiliations

Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan. pcsh@ms1.cgh.orgNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12105841

Citation

Huang, Ching-Shan, et al. "Glucose-6-phosphate Dehydrogenase Deficiency, the UDP-glucuronosyl Transferase 1A1 Gene, and Neonatal Hyperbilirubinemia." Gastroenterology, vol. 123, no. 1, 2002, pp. 127-33.
Huang CS, Chang PF, Huang MJ, et al. Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology. 2002;123(1):127-33.
Huang, C. S., Chang, P. F., Huang, M. J., Chen, E. S., & Chen, W. C. (2002). Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology, 123(1), 127-33.
Huang CS, et al. Glucose-6-phosphate Dehydrogenase Deficiency, the UDP-glucuronosyl Transferase 1A1 Gene, and Neonatal Hyperbilirubinemia. Gastroenterology. 2002;123(1):127-33. PubMed PMID: 12105841.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. AU - Huang,Ching-Shan, AU - Chang,Pi-Feng, AU - Huang,May-Jen, AU - Chen,En-Sung, AU - Chen,Wu-Charng, PY - 2002/7/10/pubmed PY - 2002/8/17/medline PY - 2002/7/10/entrez SP - 127 EP - 33 JF - Gastroenterology JO - Gastroenterology VL - 123 IS - 1 N2 - BACKGROUND & AIMS: Coinheritance of the A(TA)7TAA promoter variant in the uridine 5'-diphosphate-glucuronosyl transferase 1A1 (UGT1A1) gene and glucose-6-phosphate dehydrogenase (G6PD) deficiency is crucial to hyperbilirubinemia in white male neonates. A variation rate of 29.3% was determined within the coding region of the UGT1A1 gene in Taiwanese subjects, suggesting the hypothesis that this variation may influence incidence of hyperbilirubinemia in male neonates with G6PD deficiency. METHODS: The full sequence of the UGT1A1 gene was identified for 212 G6PD-deficient and 232 control male neonates by using polymerase chain reaction (PCR). RESULTS: Both study and control groups were divided into 5 subgroups according to their UGT1A1 genotypes. Most subjects carried G to A variation at nucleotide 211 for both genotypes of heterozygous variation within coding region and homozygous variation. No significant differences were noted for the frequencies of the 5 UGT1A1 genotypes, gestation age, and birth weight comparing the G6PD-deficient and control groups. The incidence of hyperbilirubinemia, however, was significantly higher for the study group than for the controls. This difference was noted only for the subgroup bearing the homozygous variant of the UGT1A1 gene. In the subgroup of homozygous variation, the serum bilirubin value was significantly higher for G6PD-deficient neonates than for controls. All 11 G6PD-deficient neonates with the homozygous 211 G to A variation suffered from hyperbilirubinemia. CONCLUSIONS: The results indicate that carriage of the homozygous 211 G to A variation within the coding region in the UGT1A1 gene is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates. SN - 0016-5085 UR - https://www.unboundmedicine.com/medline/citation/12105841/Glucose_6_phosphate_dehydrogenase_deficiency_the_UDP_glucuronosyl_transferase_1A1_gene_and_neonatal_hyperbilirubinemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0016508502000720 DB - PRIME DP - Unbound Medicine ER -