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Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
Fan, Juan; He, Hua-Yun; Li, Huan-Huan; Wu, Pi-Liu; Tang, Lei; Deng, Bo-Yin; Dong, Wen-Hui; Wang, Jian-Hui.
Afiliação
  • Fan J; Department of Neonatology , Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chong
  • He HY; Department of Neonatology , Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chong
  • Li HH; Department of Neonatology, Chongqing Jiulongpo People's Hospital, Chongqing, China.
  • Wu PL; Department of Neonatology, Bishan Maternity & Child Hospital of Chongqing, Chongqing, China.
  • Tang L; Department of Pediatrics, Affiliated Banan Hospital of Chongqing Medical University, Chongqing, China.
  • Deng BY; Department of Neonatology , Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chong
  • Dong WH; Department of Neonatology , Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chong
  • Wang JH; Department of Neonatology , Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chong
BMC Pediatr ; 24(1): 82, 2024 Jan 26.
Article em En | MEDLINE | ID: mdl-38279097
ABSTRACT

BACKGROUND:

Severe neonatal hyperbilirubinemia could lead to kernicterus and neonatal death. This study aimed to analyze the association between single nucleotide polymorphisms in genes involved in bilirubin metabolism and the incidence of severe hyperbilirubinemia.

METHODS:

A total of 144 neonates with severe hyperbilirubinemia and 50 neonates without or mild hyperbilirubinemia were enrolled in 3 institutions between 2019 and 2020. Twelve polymorphisms of 5 genes (UGT1A1, SLCO1B1, SLCO1B3, BLVRA, and HMOX1) were analyzed by PCR amplification of genomic DNA. Genotyping was performed using an improved multiplex ligation detection reaction technique based on ligase detection reaction.

RESULTS:

The frequencies of the A allele in UGT1A1-rs4148323 and the C allele in SLCO1B3-rs2417940 in the severe hyperbilirubinemia group (30.2% and 90.6%, respectively) were significantly higher than those in the controls (30.2% vs.13.0%, 90.6% vs. 78.0%, respectively, both p < 0.05). Haplotype analysis showed the ACG haplotype of UGT1A1 were associated with an increased hyperbilirubinemia risk (OR 3.122, p = 0.001), whereas the GCG haplotype was related to a reduced risk (OR 0.523, p = 0.018).

CONCLUSION:

The frequencies of the A allele in rs4148323 and the C allele in rs2417940 are highly associated with the incidence of severe hyperbilirubinemia in Chinese Han neonates. TRIAL REGISTRATION Trial registration numberChiCTR1800020424; Date of registration2018-12-29.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Hiperbilirrubinemia Neonatal Tipo de estudo: Risk_factors_studies Limite: Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Hiperbilirrubinemia Neonatal Tipo de estudo: Risk_factors_studies Limite: Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article