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Association of Slco1b1 Genetic Variants With Neonatal Hyperbilirubinemia: A Consolidated Analysis of 36 Studies Publisher Pubmed



Talebi H1 ; Dastgheib SA2 ; Vafapour M3 ; Bahrami R4 ; Shahbazi A5 ; Shams SE6 ; Danaei M7 ; Rashnavadi H8 ; Yeganegi M9 ; Pourkazemi M10 ; Shiri A11 ; Aghasipour M12 ; Neamatzadeh H13
Authors
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Authors Affiliations
  1. 1. Clinical Research Development Unit, Fatemieh Hospital, Hamadan University of Medical Sciences, Hamadan, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  3. 3. Department of Pediatrics, Firoozabadi Clinical Research Development Unit, Iran University of Medical Sciences, Tehran, Iran
  4. 4. Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  5. 5. Student Research Committee, School of Medicine, Ilam University of Medical Sciences, Ilam, Iran
  6. 6. Department of Pediatrics, Hamadan University of Medical Sciences, Hamadan, Iran
  7. 7. Department of Obstetrics and Gynecology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  8. 8. Student Research Committee, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  9. 9. Department of Obstetrics and Gynecology, School of Medicine, Iranshahr University of Medical Sciences, Iranshahr, Iran
  10. 10. Student Research Committee, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  11. 11. Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  12. 12. Department of Cancer Biology, College of Medicine, University of Cincinnati, Cincinnati, OH, United States
  13. 13. Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Source: BMC Pediatrics Published:2025


Abstract

Background: This study aimed to assess the link between polymorphisms in the SLCO1B1 gene, responsible for the organic anion transporter polypeptide 1B1 (OATP1B1), and the risk of neonatal hyperbilirubinemia. Methods: A comprehensive literature review was performed utilizing PubMed, Web of Knowledge, and CNKI, culminating on December 1, 2023, focusing on studies published before this date. The search employed relevant keywords and MeSH terms related to hyperbilirubinemia and genetic factors. The inclusion criteria focused on original case-control, longitudinal, or cohort studies, with no restrictions on language or publication year. Correlations were quantified as odds ratios (ORs) with 95% confidence intervals (CIs) using Comprehensive Meta-Analysis software. Results: Thirty-six case-control studies drawn from 22 publications encompassed a total of 5,186 cases and 5,561 controls. Among these, 20 studies involved the rs2306283 polymorphism, with 2,602 cases and 2,832 controls, while 16 studies focused on rs4149056, including 2,584 cases and 2,729 controls. Sample sizes varied significantly, ranging from 41 to 447 cases and 47 to 544 controls. Pooled analysis indicated no significant associations for rs2306283 overall or within Asian and Caucasian subgroups; however, significant associations emerged within the Chinese subgroup under both the allele model (OR = 1.297, 95% CI 1.012–1.662, p = 0.040) and the dominant model (OR = 1.344, 95% CI 1.013–1.784, p = 0.041), suggesting a potential risk tied to the G allele. Conversely, the examination of rs4149056 revealed no significant associations across all comparisons, including ethnic subgroup analyses. Conclusions: The results imply that polymorphisms rs2306283 and rs4149056 in the SLCO1B1 gene are generally not associated with the risk of neonatal hyperbilirubinemia in overall population. Nevertheless, rs2306283 may pose an increased risk within the Chinese population, while rs4149056 shows no significant correlations across various groups. Further research is needed to clarify these implications and investigate other genetic factors related to neonatal hyperbilirubinemia. © The Author(s) 2025.
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