ArticleFrontiers in pediatrics2026
Variants in UGT1A1 and SLCO1B1 increase the risk of neonatal hyperbilirubinemia: a case-control study in subtropical China.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: The genetic architecture underlying susceptibility to neonatal hyperbilirubinemia in specific subtropical populations remains poorly defined. This study aimed to evaluate the association between polymorphisms in the uridine diphosphate glucuronosyltransferase 1A1(UGT1A1) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) genes and the risk of neonatal hyperbilirubinemia within the Haikou population, and to explore potential cumulative genetic effects. Methods: A retrospective case-control study was conducted involving 210 neonates diagnosed with hyperbilirubinemia (case group) and 195 healthy neonates (control group) admitted to the Haikou Maternal and Child Health Hospital between January 2024 and January 2025. Serum levels of total bilirubin (TBIL), indirect bilirubin (IBIL),and alkaline phosphatase (ALP) were quantified. Seven target single nucleotide polymorphisms (SNPs) were genotyped, including four UGT1A1 loci (rs4148323, rs3771341, rs34946978, rs35350960) and three SLCO1B1 loci (rs4149056, rs2306283, rs4149015). Genotype-phenotype correlations, disease risk associations,gene-gene interactions, cumulative risk allele analyses, and combined genotype analyses were statistically evaluated. Stratified and sensitivity analyses were performed to assess the robustness of the findings. Results: The case group exhibited a significantly higher prevalence of preterm births compared to the control group (16.9% vs. 9.5%, Conclusion: Neonatal hyperbilirubinemia is a multifactorial condition; our findings underscore that UGT1A1 and SLCO1B1 variants-specifically rs4148323, rs4149056, and rs4149015-are potent genetic biomarkers for predicting disease susceptibility in the Haikou population. The significant additive cumulative effect supports the clinical value of multi-locus genetic profiling. Future large-scale studies incorporating multi-gene panels and formal additive burden testing are warranted to elucidate complex gene-gene relationships and facilitate personalized neonatal care.
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