Moreover, individuals carrying the A-allele of G6PD 1388 G>A and BLVRArs699512 had a significantly increased risk of developing neonatal hyperbilirubinaemia (OR = 5.01, P < 0.001, 95% CI: 3.42-7.85).
UGT1A1 gene variants, namely, c.211G>A, g.-3279T>G, TATA box polymorphism and CAT insertion were identified as independent molecular risk factors for neonatal hyperbilirubinemia, whereas c.686C>A, c.1091C>T and c.1456T>G were not detected in study cohort.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide that causes a spectrum of diseases including neonatal hyperbilirubinemia, acute and chronic hemolysis after exposure to oxidative stress.
Although glucose-6-phosphate dehydrogenase (G6PD) deficiency is known to be associated with the development of neonatal hyperbilirubinemia, it was observed that in neonates severe hyperbilirubinemia caused by G6PD deficiency, without associated polymorphisms in the UGT1A1 or the OATP2 gene, was preventable.
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is frequently associated with neonatal hyperbilirubinemia, and sometimes kernicterus, often in the absence of any identifiable trigger or hematological evidence of hemolysis.
In this study, we determined if G6PD enzyme activity (EA) and certain gene variants were associated with neonatal hyperbilirubinaemia requiring phototherapy during the first week after birth.
Moreover, individuals carrying the A-allele of G6PD 1388 G>A and BLVRA rs699512 had a significantly increased risk of developing neonatal hyperbilirubinaemia (OR = 5.01, P < 0.001, 95% CI: 3.42-7.85).
The results indicate that carriage of the homozygous 211 G to A variation within the coding region in the UGT1A1 gene is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates.
The current study augments the etiological role of G6PD in the causation and severity of NHB in the region; however, in the absence of significant difference in the reticulocytes and the hemoglobin level, the underlying mechanism cannot be backed to the excess hemolysis alone.
The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns.
Like glucose-6-phosphate dehydrogenase (G6PD) deficient hemizygous males and homozygous females, heterozygous females could also manifest hemolytic crisis, neonatal hyperbilirubinemia or kernicterus upon exposure to oxidative stress induced by certain foods such as fava beans, drugs or infections.
We would like to determine whether the variation of UGT1A1 gene, SLCO1B1 gene and GST gene may play a significant role in neonatal hyperbilirubinemia in Thai infants.
The results of this study indicate that there is a significant association between the HMOX1 (GT)<sub>n</sub> repeat length polymorphism and susceptibility to neonatal hyperbilirubinemia.