Association of G6PD, UGT1A1, and SLCO1B1 Gene Polymorphisms with Neonatal Hyperbilirubinemia Detected by MALDI-TOF MS/MS Technology
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Objective: To investigate the relationship between neonatal G6PD deficiency and UGT1A1 and SLCO1B1 gene polymorphisms and phenotypes, as well as its association with neonatal hyperbilirubinemia (NHB), using MALDI-TOF MS/MS technology. Methods: Twenty-one cases of neonatal hyperbilirubinemia were selected as the study group, and 195 healthy subjects were recruited as the control group. G6PD enzyme activity was quantitatively measured in peripheral blood samples. Samples underwent G6PD mutation and single nucleotide polymorphism (SNP) analysis at UGT1A1 and SLCO1B1 gene loci using the MassARRAY® MALDI-TOF system (Agena Bioscience®, California, USA). Associations with quantified G6PD activity and bilirubin levels were evaluated. Results: Among the 10 SNP loci analyzed for association with serum total bilirubin concentration, G6PD's 95A>G (rs137852340), 1388G>A (rs72554664) in G6PD, 1211 G>A (rs4148323) in UGT1A1, and -11187G>A (rs4149015) in SLCO1B1 significantly influenced serum total bilirubin levels. Conclusion: Genetic variations in bilirubin metabolism genes such as G6PD 95A>G (rs137852340), 1388G>A (rs72554664), UGT1A 1211 G>A (rs4148323), and SLCO1B1 ⁃ 11187G>A (rs4149015) are important risk factors for neonatal hyperbilirubinemia. These genetic variants are associated with the risk of developing neonatal hyperbilirubinemia and serve as potential biomarkers for predicting this condition.
