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Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert's syndrome (CROSBI ID 201317)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Žaja, Orjena ; Kujundžić Tiljak, Mirjana ; Štefanović, Mario ; Jurčić, Zvonko Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert's syndrome // Journal of maternal-fetal and neonatal medicine, 27 (2014), 8; 844-850. doi: 10.3109/14767058.2013.837879

Podaci o odgovornosti

Žaja, Orjena ; Kujundžić Tiljak, Mirjana ; Štefanović, Mario ; Jurčić, Zvonko

engleski

Correlation of UGT1A1 TATA-box polymorphism and jaundice in breastfed newborns-early presentation of Gilbert's syndrome

Abstract Objective: The etiology of jaundice in otherwise healthy breastfed newborns that can present as early-onset exaggerated physiologic jaundice, or late breast milk jaundice (BMJ), is not yet entirely understood. This study tested the hypothesis that molecular marker for Gilbert's syndrome (GS), UGT1A1 TATA-box polymorphism, is associated with this disorders. Methods: We have investigated the UGT1A1 polymorphism frequency and its relation to severity of hyperbilirubinemia and jaundice duration among 220 exclusively breastfed term newborns ; 57 of them with non-physiologic hyperbilirubinemia (NH), and 163 with BMJ, and in 187 healthy controls. Results: Significant differences in TA7/7 genotype frequency were established. The highest frequency was observed among the newborns with BMJ (42.0%), intermediate in the NH group (24.6%), while the controls had the lowest TA7/7 frequency (12.8%). Linear increase in TA7/7 frequency was observed depending on the duration of jaundice, peaking at 42.4% in newborns with the longest jaundice duration. Positive correlation between the serum bilirubin levels and the TATA-box length was established in all groups. Conclusion: This study provides evidence that UGT1A1 TATA-box polymorphism is an important risk factor for developing jaundice in term breastfed newborns, presented as either early non-physiologic hyperbilirubinemia or breast milk jaundice. These results further support the original Odell's idea of neonatal jaundice as an early presentation of GS.

Jaundice ; neonatal hyperbilirubinemia ; TATA-box polymorphism ; UGT1A1 gene

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Podaci o izdanju

27 (8)

2014.

844-850

objavljeno

1476-7058

10.3109/14767058.2013.837879

Povezanost rada

Kliničke medicinske znanosti

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