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J Pediatr. 2014 Jul;165(1):36-41.e1. doi: 10.1016/j.jpeds.2014.01.060. Epub 2014 Mar 17.

Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice.

Author information

1
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, Shiga, Japan. Electronic address: maruo@belle.shiga-med.ac.jp.
2
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, Shiga, Japan.
3
Department of Pediatrics, Hanwasumiyoshin General Hospital, Osaka, Japan; Department of Pediatrics, Hino Memorial Hospital, Kozukeda, Hino, Japan.
4
Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, Shiga, Japan; Department of Pediatrics, Hino Memorial Hospital, Kozukeda, Hino, Japan.
5
Department of Health and Nutrition, Faculty of Health and Human Life, Nagoya Bunri University, Inazawa, Japan.
6
Departments of Pharmacology, Chemistry, and Biochemistry, University of California San Diego, La Jolla, CA.

Abstract

OBJECTIVE:

To evaluate the role of bilirubin UDP-glucuronosyltransferase family 1, polypeptide A1 (UGT1A1) gene variations on prolonged unconjugated hyperbilirubinemia associated with breast milk feeding (breast milk jaundice [BMJ]).

STUDY DESIGN:

UGT1A1 gene allelic variation was analyzed in 170 Japanese infants with BMJ with polymerase chain reaction-direct sequencing, and their genotypes compared with serum bilirubin concentrations. In 62 of 170 infants, serum bilirubin concentration was followed after 4 months of life. Genotypes were examined in 55 infants without BMJ.

RESULTS:

Of 170 infants with BMJ, 88 (51.8%) were homozygous UGT1A1*6. Serum bilirubin concentrations (21.8 ± 3.65 mg/dL) were significantly greater than in infants with other genotypes (P < .0001). The Gilbert UGT1A1*28 allele was not detected in infants with BMJ, except in an infant who was compound heterozygous with UGT1A1*6. At 4 months of age, serum bilirubin concentration improved to >1 mg/dL, except in 2 infants who were homozygous UGT1A1*7. Homozygous UGT1A1*6 was not detected in the control group.

CONCLUSION:

One-half of the infants with BMJ were homozygous UGT1A1*6 and exhibited a serum bilirubin concentration significantly greater than other genotypes. This finding indicates that UGT1A1*6 is a major cause of BMJ in infants in East Asia. Previous finding have demonstrated that 5β-pregnane-3α,20β-diol present in breast milk inhibits p.G71R-UGT1A1 bilirubin glucuronidation activity. Thus, prolonged unconjugated hyperbilirubinemia may develop in infants with UGT1A1*6 who are fed breast milk.

PMID:
24650397
PMCID:
PMC4123958
DOI:
10.1016/j.jpeds.2014.01.060
[Indexed for MEDLINE]
Free PMC Article

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