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Title: Associations between UGT1A1 and SLCO1B1 polymorphisms and susceptibility to neonatal hyperbilirubinemia in Thai population
Authors: Chalirmporn Atasilp
Janjira Kanjanapipak
Jaratdao Vichayaprasertkul
Pimonpan Jinda
Rawiporn Tiyasirichokchai
Pornpen Srisawasdi
Chatchay Prempunpong
Monpat Chamnanphon
Apichaya Puangpetch
Natchaya Vanwong
Suwit Klongthalay
Thawinee Jantararoungtong
Chonlaphat Sukasem
Ramathibodi Hospital
Chulalongkorn University
Rangsit University
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Thammasat University
Faculty of Medicine, Srinakharinwirot University
Keywords: Medicine
Issue Date: 1-Dec-2022
Citation: BMC Pediatrics. Vol.22, No.1 (2022)
Abstract: Hyperbilirubinemia is the main mechanism that causes neonatal jaundice, and genetics is one of the risk factors of hyperbilirubinemia. Therefore, this study aims to explore the correlation between two genes, UGT1A1 and SLCO1B1, and hyperbilirubinemia in Thai neonates. One hundred thirty seven neonates were recruited from Division of Clinical Chemistry, Ramathibodi Hospital. UGT1A1*28 and *6 were determined by pyrosequencing whereas, SLCO1B1 388A > G and 521 T > C genetic variants were determined by TaqMan® real-time polymerase chain reaction. Neonates carrying with homozygous (AA) and heterozygous (GA) variants in UGT1A1*6 were significantly related to hyperbilirubinemia development compared with wild type (GG; P < 0.001). To the combined of UGT1A1, total bilirubin levels in homozygous variant were higher significantly than heterozygous variant and wild type (P = 0.002, P = 0.003, respectively). Moreover, SLCO1B1 combination was significant differences between the hyperbilirubinemia and the control group (P = 0.041). SLCO1B1 521 T > C variant provide protection for Thai neonatal hyperbilirubinemia (P = 0.041). There are no significant differences in UGT1A1*28 and SLCO1B1 388A > G for the different severity of hyperbilirubinemia. The combined UGT1A1*28 and *6 polymorphism is a strong risk factor for the development of severe hyperbilirubinemia in Thai neonates. Therefore, we suggest neonates with this gene should be closely observed to avoid higher severities of bilirubin.
ISSN: 14712431
Appears in Collections:Scopus 2022

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