Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene?

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F09%3A4026" target="_blank" >RIV/00216208:11110/09:4026 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/09:4026

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene?

Popis výsledku v původním jazyce

Promoter variants c.-3279T>G and A(TA)7TAA show decreased level of expression of UDP-glucuronosyl transferase 1A1 ( UGT1A1) and consequently reduced activity of the enzyme catalyzing glucuronidation of bilirubin in hepatocytes. Thus, coincidental occurence of both variants should lead to increase of hyperbilirubinemia or contribute to its manifestation. In this study, investigation of both variants in 101 patients and 84 controls in a Caucasian population was performed and the results were compared withserum bilirubin levels. Despite high linkage disequilibrium between the loci ( D' = 0.91, r(2) = 0.69), we have proven an interaction between the variants increasing the odds ratio for [( TA) 7]+c.[-3279T>G] homozygotes to 54.2.

Název v anglickém jazyce

Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene?

Popis výsledku anglicky

Promoter variants c.-3279T>G and A(TA)7TAA show decreased level of expression of UDP-glucuronosyl transferase 1A1 ( UGT1A1) and consequently reduced activity of the enzyme catalyzing glucuronidation of bilirubin in hepatocytes. Thus, coincidental occurence of both variants should lead to increase of hyperbilirubinemia or contribute to its manifestation. In this study, investigation of both variants in 101 patients and 84 controls in a Caucasian population was performed and the results were compared withserum bilirubin levels. Despite high linkage disequilibrium between the loci ( D' = 0.91, r(2) = 0.69), we have proven an interaction between the variants increasing the odds ratio for [( TA) 7]+c.[-3279T>G] homozygotes to 54.2.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

CE - Biochemie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2009

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Cellular and Molecular Biology

ISSN

0145-5680

e-ISSN

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Svazek periodika

55

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

FR - Francouzská republika

Počet stran výsledku

4

Strana od-do

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Kód UT WoS článku

000267200400014

EID výsledku v databázi Scopus

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