Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.

BACKGROUND: Severe neonatal hyperbilirubinemia could lead to kernicterus and neonatal death. This study aimed to analyze the association between single nucleotide polymorphisms in genes involved in bilirubin metabolism and the incidence of severe hyperbilirubinemia. METHODS: A total of 144 neonates with severe hyperbilirubinemia and 50 neonates without or mild hyperbilirubinemia were enrolled in 3 institutions between 2019 and 2020. Twelve polymorphisms of 5 genes (UGT1A1, SLCO1B1, SLCO1B3, BLVRA, and HMOX1) were analyzed by PCR amplification of genomic DNA. Genotyping was performed using an improved multiplex ligation detection reaction technique based on ligase detection reaction. RESULTS: The frequencies of the A allele in UGT1A1-rs4148323 and the C allele in SLCO1B3-rs2417940 in the severe hyperbilirubinemia group (30.2% and 90.6%, respectively) were significantly higher than those in the controls (30.2% vs.13.0%, 90.6% vs. 78.0%, respectively, both p < 0.05). Haplotype analysis showed the ACG haplotype of UGT1A1 were associated with an increased hyperbilirubinemia risk (OR 3.122, p = 0.001), whereas the GCG haplotype was related to a reduced risk (OR 0.523, p = 0.018). CONCLUSION: The frequencies of the A allele in rs4148323 and the C allele in rs2417940 are highly associated with the incidence of severe hyperbilirubinemia in Chinese Han neonates. TRIAL REGISTRATION: Trial registration number:ChiCTR1800020424; Date of registration:2018-12-29.

[Effects of different types and concentration of oral sweet solution on reducing neonatal pain during heel lance procedures].

OBJECTIVE: To compare the effect of different types and concentrations of sweet solutions on neonatal pain during heel lance procedure. METHOD: Totally 560 full term neonates (male 295, female 265) were randomized into 7 groups:placebo group (plain water), 10% glucose, 25% glucose, 50% glucose, 12% sucrose, 24% sucrose and 30% sucrose groups.In each group, 2 ml corresponding oral solutions were administered through a syringe by dripping into the neonate's mouth 2 minute before heel lance. The procedure process was recorded by videos, from which to collect heart rate, oxygen saturation and pain score 1 min before puncture, 3, 5 and 10 min after puncture. RESULT: The average heart rate increase 3, 5 and 10 min after procedure in the 25% and 50% glucose groups, 12% and 24% and 30% sucrose groups was significantly lower than those in the placebo group (P < 0.01 or 0.05). The average heart rate increase 3 min after procedure in the sucrose group was lower than that in the glucose group (P < 0.01).Neonates who received 30% sucrose has a significantly lower average heart rate increase than those who received 12% and 24% sucrose 3 min after heel lance (both P < 0.05) . The average oxygen saturation decrease 3, 5, 10 min after procedure was significantly lower than those in the placebo group (P < 0.01). The average oxygen saturation decrease 3 min after procedure in the sucrose groups was significantly lower than that in the glucose groups (P < 0.01). The average pain score 3, 5, 10 min after procedure was significantly lower than those in the placebo group (P < 0.01). The average pain score 3 min after procedure in the sucrose groups was significantly lower than that in the glucose groups (P < 0.01). CONCLUSION: Oral administration of sweet solutions is an effective way to relieve neonatal pain on procedure, and sucrose has a better pain relief action than glucose, moreover, 30% sucrose provides better effect in control of heart rate increase 3 min after heel lance, but the best concentration of sucrose for pain relief needs further study.