Association of SLCO1B1 genetic variants with neonatal hyperbilirubinemia: a consolidated analysis of 36 studies.

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.