Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G > A (G71R) mutation becomes a risk factor under inadequate feeding

Journal of Human Genetics

Volumn 58, Issue 1, 2013, Pages 7-10

  Sato, Hiroko ^a   Uchida, Toshihiko ^b   Toyota, Kentaro ^a   Kanno, Miyako ^a   Hashimoto, Taeko ^a   Watanabe, Masashi ^b   Nakamura, Tomohiro ^a   Tamiya, Gen ^a   Aoki, Kuraaki ^a   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b Yamagata Prefectural Central Hospital   (Japan)

Author keywords

Breastfeeding; Gilbert syndrome; Neonatal hyperbilirubinemia; UGT1A1

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1;

ARTICLE; BILIRUBIN BLOOD LEVEL; BIRTH WEIGHT; BREAST FEEDING; BREAST MILK; CESAREAN SECTION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENOTYPE; GESTATIONAL AGE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; NEONATAL WEIGHT LOSS; NEWBORN; NEWBORN JAUNDICE; NEWBORN PERIOD; PHOTOTHERAPY; PROMOTER REGION; RISK FACTOR; SEX;

BREAST FEEDING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLUCURONOSYLTRANSFERASE; HISTORY, 16TH CENTURY; HUMANS; HYPERBILIRUBINEMIA, NEONATAL; INCIDENCE; INFANT, NEWBORN; JAPAN; MALE; MUTATION; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 84873036611     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.116     Document Type: Article

References (19)

1. Halamek., L. P. & Stevenson, D. K. In Neonatal-Perinatal Medicine. (eds Fanaroff, A. A. & Martin, R. J.) 1345-1389 (Mosby-Year Book, St. Louis, 1997).
2. Kawade, N. & Onishi, S. The prenatal and postnatal development of UDPglucuronyltransferase activity towards bilirubin and the effect of premature birth on this activity in the human liver. Biochem. J 196, 257-260 (1981).
3. Beutler, E., Gelbart, T. & Demina, A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc. Natl Acad. Sci. USA 95, 8170-8174 (1998).
4. Akaba, K., Kimura, T., Sasaki, A., Tanabe, S., Ikegami, T., Hashimoto, M. et al. Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphateglucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. Biochem. Mol. Biol. Int. 46, 21-26 (1998).
5. Akaba, K., Kimura, T., Sasaki, A., Tanabe, S., Wakabayashi, T., Hiroi, M. et al. Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphateglucuronosyltransferase gene in Japanese. J. Hum. Genet. 44, 22-25 (1999).
6. Long, J., Zhang, S., Fang, X., Luo, Y. & Liu, J. Association of neonatal hyperbilirubinemia with uridine diphosphate-glucuronosyltransferase 1A1 gene polymorphisms: meta-analysis. Pediatr. Int. 53, 530-540 (2011).
7. Chou., H. C., Chen, M. H., Yang, H. I., Su, Y. N., Hsieh, W. S., Chen, C. Y. et al. 211G to A variation of UDP-glucuronosyl transferase 1A1 gene and neonatal greastfeeding jaundice. Pediatr. Res. 69, 170-174 (2011).
8. Chang, P. F., Lin, Y. C., Liu, K., Yeh, S. J. & Ni, Y. H. Risk of hyperbilirubinemia in breast-fed Infants. J. Pediatr. 159, 561-565 (2011).
9. Gourley, G. R. Breast-feeding neonatal jaundice and kernicterus. Semin. Neonatol. 7, 135-141 (2002).
10. Jinks, D. C., Minter, M., Tarver, D. A., Vanderford, M., Hejtmancik, J. F. & McCabe, E. R. Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for neonatescreening. Hum. Genet. 81, 363-366 (1989).
11. Baudhuin, L. M., Highsmith, W. E., Skierka, J., Holtegaard, L., Moore, B. E. & O'Kane, D. J. Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism. Clin. Biochem. 40, 710-717 (2007).
12. Kanai, M., Kijima, K., Shirahata, E., Sasaki, A., Akaba, K., Umetsu, K. et al. Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: the common 3263T4G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese. Pediatr. Int 47, 137-141 (2005).
13. Kanai, M., Akaba, K., Sasaki, A., Sato, M., Harano, T., Shibahara, S. et al. Neonatal hyperbilirubinemia in Japanese neonates: analysis of the heme oxygenase-1 gene and fetal hemoglobin composition in cord blood. Pediatr. Res. 54, 165-171 (2003).
14. Dewey, K. G., Nommsen-Rivers, L. A., Heinig, M. J. & Cohen, R. J. Risk factors for suboptimal infant breastfeeding behavior, delayed onset of lactation, and excess neonatal weight loss. Pediatrics 112, 607-619 (2003).
15. Keren, R., Bhutani, V. K., Luan, X., Nihtianova, S., Cnaan, A. & Schwartz, J. S. Identifying newborns at risk of significant hyperbilirubinaemia: a comparison of two recommended approaches. Arch. Dis. Child 90, 415-421 (2005).
16. Calder, A. A., Ounsted, M. K., Moar, V. A. & Turnbull, A. C. Increased bilirubin levels in neonates after induction of labour by intravenous prostaglandin E2 or oxytocin. Lancet 2, 1339-1342 (1974).
17. Chang, R. J., Chou, H. C., Chang, Y. H., Chen, M. H., Chen, C. Y., Hsieh, W. S. et al. Weight loss percentage prediction of subsequent neonatal hyperbilirubinemia in exclusively breastfed neonates. Pediatr. Neonatol. 53, 41-44 (2012).
18. Ishihara, T., Kaito, M., Takeuchi, K., Gabazza, E. C., Tanaka, Y., Higuchi, K. et al. Role of UGT1A1 mutation in fasting hyperbilirubinemia. J. Gastroenterol. Hepatol. 16, 678-682 (2001).
19. American Academy of Pediatrics. Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics 114, 297-316 (2004).