Variants in UGT1A1 and SLCO1B1 increase the risk of neonatal hyperbilirubinemia: a case-control study in subtropical China - Report - MDSpire

Variants in UGT1A1 and SLCO1B1 increase the risk of neonatal hyperbilirubinemia: a case-control study in subtropical China

  • By

  • Wen-Fang Wang

  • Li-Sen Shi

  • Zeng-Wen Xing

  • Yan-Mei Han

  • Wei-Qiang Liu

  • June 24, 2026

  • 0 min

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Genetic Variants in UGT1A1 and SLCO1B1 Elevate Neonatal Hyperbilirubinemia Risk

Overview

This study identifies associations between genetic variants in UGT1A1 and SLCO1B1 genes and the risk of neonatal hyperbilirubinemia in a subtropical Chinese population.

Background

Neonatal hyperbilirubinemia is a common condition that can lead to severe complications if untreated. This study focuses on the Haikou population in subtropical China, where genetic susceptibility may play a role in disease manifestation.

Data Highlights

Genetic VariantCase Group FrequencyControl Group FrequencyP-value
UGT1A1 rs414832322.14%11.79%< 0.05
SLCO1B1 rs414905619.05%10.26%< 0.05
SLCO1B1 rs414901521.43%11.79%< 0.05

Key Findings

  • The prevalence of preterm births was higher in the hyperbilirubinemia group (16.9%) compared to controls (9.5%) with a P-value of 0.04.
  • UGT1A1 rs4148323 GA genotype was associated with an increased risk of hyperbilirubinemia (OR = 2.370).
  • SLCO1B1 rs4149056 TC genotype was linked to a significant risk increase (OR = 1.594).
  • Carriers of multiple risk alleles (3-4) exhibited a markedly elevated risk of hyperbilirubinemia (adjusted OR = 3.412).
  • Combined genotype analysis showed higher total bilirubin levels in carriers of concurrent genetic variants.

Clinical Implications

The identification of UGT1A1 and SLCO1B1 variants as genetic biomarkers for neonatal hyperbilirubinemia may assist in understanding risk factors associated with this condition.

Conclusion

The study highlights the role of specific genetic variants in the risk of neonatal hyperbilirubinemia.

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