A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns

作者：Ergin Hacer^*; Bican Mevluet; Atalay O Erol

来源：Turkish Journal of Pediatrics, 2010, 52(1): 28-34.

• hyperbilirubinemia
• ABO incompatibility
• promoter polymorphism
• glucose-6-phosphate dehydrogenase deficiency
• Gilbert syndrome
• breast-feeding

Ergin H, Bican M, Atalay OE. A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns. Turk J Pediatr 2010; 52: 28-34. The etiology of pathological jaundice can not be identified in almost half of the cases. The effect of promoter polymorphism in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene was investigated in healthy breast-fed Turkish neonates with unexplained and direct Coombs'-negative ABO incompatible hyperbilirubinemia. Newborns whose peak serum bilirubin levels were >= 17 mg/dl and <= 12.9 mg/dl within the first week of life formed the idiopathic hyperbilirubinemia (n: 50) and control (n: 54) groups, respectively. Thymine-adenine (TA) repeats in the promoter region of the UGT1A1 gene were investigated by polymerase chain reaction (PCR)-based non-radioactive DNA sequencing. In the idiopathic hyperbilirubinemia group, higher peak bilirubin levels, higher heterozygous and variant homozygous genotypes, higher TA7 allele frequencies, and shorter peak time were observed (p<0.001, p<0.001, p<0.001, p<0.05, respectively). In conclusion, healthy breast-fed Turkish neonates who carry heterozygous and variant homozygous genotypes in the UGT1A1 gene are at high risk of developing significant hyperbilirubinemia without additional icterogenic factors.

• 出版日期2010-2