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UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia

OBJECTIVE: The genetic involvement in unconjugated neonatal hyperbilirubinemia has been extensively studied. Despite the high incidence of hyperbilirubinemia in Indonesia, studies are lacking. The objective of this study is to elucidate the role of polymorphism in the UGT1A1 in Neonatal Hyperbilirub...

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Autores principales: Amandito, Radhian, Putradista, Raihandhana, Jikesya, Clara, Utaminingsih, Dwi, Rusin, Jumnalis, Rohsiswatmo, Rinawati, Malik, Amarila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851072/
https://www.ncbi.nlm.nih.gov/pubmed/29534743
http://dx.doi.org/10.1186/s13104-018-3284-y
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author Amandito, Radhian
Putradista, Raihandhana
Jikesya, Clara
Utaminingsih, Dwi
Rusin, Jumnalis
Rohsiswatmo, Rinawati
Malik, Amarila
author_facet Amandito, Radhian
Putradista, Raihandhana
Jikesya, Clara
Utaminingsih, Dwi
Rusin, Jumnalis
Rohsiswatmo, Rinawati
Malik, Amarila
author_sort Amandito, Radhian
collection PubMed
description OBJECTIVE: The genetic involvement in unconjugated neonatal hyperbilirubinemia has been extensively studied. Despite the high incidence of hyperbilirubinemia in Indonesia, studies are lacking. The objective of this study is to elucidate the role of polymorphism in the UGT1A1 in Neonatal Hyperbilirubinemia in Bengkulu, Indonesia. RESULTS: There were 41 neonates enrolled in the study; 30 had a total serum bilirubin level ≥ 15 mg/dL (hyperbilirubinemia neonates) while 11 has < 15 mg/dL (control neonates). Genetic mutations in Exon 1, UGT1A1*6 (c211g > a) and one in promoter region, UGT1A1*60 (c3279t > g) were determined by polymerase chain reaction–restriction fragment length polymorphism. We found 18 (60%) mutation in exon 1 in hyperbilirubinemia group and 7 (64%) in the control group with an identical allele frequency of 0.3 in both groups. We found heterozygous UGT1A1*60 4 times (13.3%) and homozygous 26 times (86.7%) in the hyperbilirubinemia group, with an identical allele frequency of 0.935 in hyperbilirubinemia and 1 in control group. This study supports the involvement of genetic factors in the development of unconjugated hyperbilirubinemia in Bengkulu population.
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spelling pubmed-58510722018-03-21 UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia Amandito, Radhian Putradista, Raihandhana Jikesya, Clara Utaminingsih, Dwi Rusin, Jumnalis Rohsiswatmo, Rinawati Malik, Amarila BMC Res Notes Research Note OBJECTIVE: The genetic involvement in unconjugated neonatal hyperbilirubinemia has been extensively studied. Despite the high incidence of hyperbilirubinemia in Indonesia, studies are lacking. The objective of this study is to elucidate the role of polymorphism in the UGT1A1 in Neonatal Hyperbilirubinemia in Bengkulu, Indonesia. RESULTS: There were 41 neonates enrolled in the study; 30 had a total serum bilirubin level ≥ 15 mg/dL (hyperbilirubinemia neonates) while 11 has < 15 mg/dL (control neonates). Genetic mutations in Exon 1, UGT1A1*6 (c211g > a) and one in promoter region, UGT1A1*60 (c3279t > g) were determined by polymerase chain reaction–restriction fragment length polymorphism. We found 18 (60%) mutation in exon 1 in hyperbilirubinemia group and 7 (64%) in the control group with an identical allele frequency of 0.3 in both groups. We found heterozygous UGT1A1*60 4 times (13.3%) and homozygous 26 times (86.7%) in the hyperbilirubinemia group, with an identical allele frequency of 0.935 in hyperbilirubinemia and 1 in control group. This study supports the involvement of genetic factors in the development of unconjugated hyperbilirubinemia in Bengkulu population. BioMed Central 2018-03-13 /pmc/articles/PMC5851072/ /pubmed/29534743 http://dx.doi.org/10.1186/s13104-018-3284-y Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Note
Amandito, Radhian
Putradista, Raihandhana
Jikesya, Clara
Utaminingsih, Dwi
Rusin, Jumnalis
Rohsiswatmo, Rinawati
Malik, Amarila
UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
title UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
title_full UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
title_fullStr UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
title_full_unstemmed UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
title_short UGT1A1 gene and neonatal hyperbilirubinemia: a preliminary study from Bengkulu, Indonesia
title_sort ugt1a1 gene and neonatal hyperbilirubinemia: a preliminary study from bengkulu, indonesia
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851072/
https://www.ncbi.nlm.nih.gov/pubmed/29534743
http://dx.doi.org/10.1186/s13104-018-3284-y
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