About: Does bilirubin level correspond to interaction of c.-3279T

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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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 with serum 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. 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 with serum 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. (en)
Title	Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? (en)
skos:prefLabel	Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? (en)
skos:notation	RIV/00216208:11110/09:4026!RIV10-MSM-11110___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Šlachtová, Lenka Kabíček, Pavel Kemlink, David Martásek, Pavel
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	311080
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4026
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	c.-3279T > G; A(TA)7TAA; UGT1A1; Gilbert's syndrome; bilirubin; udp-glucuronosyltransferase gene; responsive enhancer module; rna-polymerase-ii; gilberts-syndrome; polymorphisms; promoter; population; mutations; linkage (en)
http://linked.open.../riv/klicoveSlovo	Gilbert's syndrome promoter bilirubin mutations polymorphisms population linkage UGT1A1 A(TA)7TAA c.-3279T > G gilberts-syndrome responsive enhancer module rna-polymerase-ii udp-glucuronosyltransferase gene
http://linked.open...odStatuVydavatele	FR - Francouzská republika
http://linked.open...ontrolniKodProRIV	[15672965AE87]
http://linked.open...i/riv/nazevZdroje	Cellular and Molecular Biology
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	55
http://linked.open...iv/tvurceVysledku	Kemlink, David Martásek, Pavel Kabíček, Pavel Šlachtová, Lenka
http://linked.open...ain/vavai/riv/wos	000267200400014
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0145-5680
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene? Does bilirubin level correspond to interaction of c.-3279T > G and A(TA)7TAA variants in UGT1A1 gene?

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