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Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia.
Acta Biochim Pol. 2017; 64(2):351-356.AB

Abstract

OBJECTIVE

To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia.

STUDY DESIGN

The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™.

RESULT

Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys.

CONCLUSION

Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.

Authors+Show Affiliations

Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland.Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland.Department of Biotechnology, Intercollegiate Faculty of Biotechnology, University of Gdansk and Medical University of Gdansk, Gdańsk, Poland.Department of Obstetrics, Medical University of Gdansk, Gdańsk, Poland.Department of Obstetrics, Medical University of Gdansk, Gdańsk, Poland.Department of Neonatology, Medical University of Gdansk, Gdańsk, Poland.Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.Department of General and Medical Biochemistry, University of Gdansk, Gdańsk, Poland.Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.Department of Pediatrics, Pediatric Gastroenterology, Hepatology and Nutrition, Medical University of Gdansk, Gdańsk, Poland.Faculty of Health Sciences with Subfaculty of Nursing, Medical University of Gdansk, Gdańsk, Poland.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28399191

Citation

Mazur-Kominek, Katarzyna, et al. "Association Between Uridin Diphosphate Glucuronosylotransferase 1A1 (UGT1A1) Gene Polymorphism and Neonatal Hyperbilirubinemia." Acta Biochimica Polonica, vol. 64, no. 2, 2017, pp. 351-356.
Mazur-Kominek K, Romanowski T, Bielawski K, et al. Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia. Acta Biochim Pol. 2017;64(2):351-356.
Mazur-Kominek, K., Romanowski, T., Bielawski, K., Kiełbratowska, B., Preis, K., Domżalska-Popadiuk, I., Słomińska-Frączek, M., Sznurkowska, K., Renke, J., Plata-Nazar, K., Śledzińska, K., Sikorska-Wiśniewska, G., Góra-Gębka, M., & Liberek, A. (2017). Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia. Acta Biochimica Polonica, 64(2), 351-356. https://doi.org/10.18388/abp.2016_1450
Mazur-Kominek K, et al. Association Between Uridin Diphosphate Glucuronosylotransferase 1A1 (UGT1A1) Gene Polymorphism and Neonatal Hyperbilirubinemia. Acta Biochim Pol. 2017;64(2):351-356. PubMed PMID: 28399191.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia. AU - Mazur-Kominek,Katarzyna, AU - Romanowski,Tomasz, AU - Bielawski,Krzysztof, AU - Kiełbratowska,Bogumiła, AU - Preis,Krzysztof, AU - Domżalska-Popadiuk,Iwona, AU - Słomińska-Frączek,Magdalena, AU - Sznurkowska,Katarzyna, AU - Renke,Joanna, AU - Plata-Nazar,Katarzyna, AU - Śledzińska,Karolina, AU - Sikorska-Wiśniewska,Grażyna, AU - Góra-Gębka,Magdalena, AU - Liberek,Anna, Y1 - 2017/04/12/ PY - 2016/11/08/received PY - 2017/01/17/revised PY - 2017/02/07/accepted PY - 2017/4/12/pubmed PY - 2017/8/12/medline PY - 2017/4/12/entrez KW - UGT1A1 gene KW - hyperbilirubinemia KW - neonates KW - polymorphism SP - 351 EP - 356 JF - Acta biochimica Polonica JO - Acta Biochim. Pol. VL - 64 IS - 2 N2 - OBJECTIVE: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. STUDY DESIGN: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. RESULT: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. CONCLUSION: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia. SN - 1734-154X UR - https://www.unboundmedicine.com/medline/citation/28399191/Association_between_uridin_diphosphate_glucuronosylotransferase_1A1__UGT1A1__gene_polymorphism_and_neonatal_hyperbilirubinemia_ L2 - http://ojs.ptbioch.edu.pl/index.php/abp/article/view/1450 DB - PRIME DP - Unbound Medicine ER -