Unknown

Dataset Information

0

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


ABSTRACT: 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]).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.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.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 5?-pregnane-3?,20?-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.

SUBMITTER: Maruo Y 

PROVIDER: S-EPMC4123958 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Maruo Yoshihiro Y   Morioka Yoriko Y   Fujito Hiroshi H   Nakahara Sayuri S   Yanagi Takahide T   Matsui Katsuyuki K   Mori Asami A   Sato Hiroshi H   Tukey Robert H RH   Takeuchi Yoshihiro Y  

The Journal of pediatrics 20140317 1


<h4>Objective</h4>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]).<h4>Study design</h4>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 concentra  ...[more]

Similar Datasets

| S-EPMC3391414 | biostudies-literature
| S-EPMC2682239 | biostudies-literature
| S-EPMC4384416 | biostudies-literature
| S-EPMC4205369 | biostudies-literature
| S-EPMC2758119 | biostudies-literature
| S-EPMC1174165 | biostudies-other
| S-EPMC4837415 | biostudies-literature
| S-EPMC7011111 | biostudies-literature
| S-EPMC3525886 | biostudies-literature
| S-EPMC293879 | biostudies-other