Sökning: onr:"swepub:oai:gup.ub.gu.se/176523" > Gallstone disease i...
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000 | 03653naa a2200409 4500 | |
001 | oai:gup.ub.gu.se/176523 | |
003 | SwePub | |
008 | 240528s2013 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:126874439 | |
024 | 7 | a https://gup.ub.gu.se/publication/1765232 URI |
024 | 7 | a https://doi.org/10.1111/liv.121412 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1268744392 URI |
040 | a (SwePub)gud (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Marschall, Hanns-Ulrich,d 1954u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xmarsh |
245 | 1 0 | a Gallstone disease in Swedish twins is associated with the Gilbert variant of UGT1A1. |
264 | c 2013-03-20 | |
264 | 1 | b Wiley,c 2013 |
520 | a BACKGROUND & AIMS: The Gilbert syndrome-associated functional TATA box variant UGT1A1*28 (A(TA)7 TAA) was found to increase susceptibility to pigment gallstone formation in patients with haemolytic anaemia. Further studies in extensive cohorts demonstrated an increased risk of this variant for cholesterol gallstone disease (GD). We now investigated this polymorphism as a determinant of symptomatic GD in Swedish twins. METHODS: The Swedish Twin Registry was merged with the Hospital Discharge and Causes of Death Registries and searched for GD-related diagnoses among monozygotic (MZ) twins living in the Stockholm area. In addition, we screened the TwinGene database for GD. In total, we found 44 MZ twin pairs with and eight MZ twins without GD to be evaluable. GD-free twins from TwinGene (109 concordantly MZ and 126 independent DZ) served as controls. UGT1A1*28 genotyping was performed using TaqMan assays. RESULTS: Overall, 58 and 8 of 106 twins with GD were hetero- and homozygous UGT1A1 risk allele carriers respectively. The case-control association tests showed a significantly (P<0.05) increased risk of developing GD (OR=1.62, 95% CI 1.00-2.63) in heterozygotes carriers and in addition, a trend (P=0.075) for an increased risk among carriers (OR=1.52, 95% CI 0.97-2.44) of the risk allele. CONCLUSION: These data from Swedish twins confirm the Gilbert variant as risk factor for GD. Our observation is in line with nucleation in bilirubin supersaturated bile representing an initial step in cholelithogenesis. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng |
700 | 1 | a Krawczyk, Marcin4 aut |
700 | 1 | a Grünhage, Frank4 aut |
700 | 1 | a Katsika, Despina4 aut |
700 | 1 | a Einarsson, Curt4 aut |
700 | 1 | a Lammert, Frank4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för medicin, avdelningen för molekylär och klinisk medicin4 org |
773 | 0 | t Liver international : official journal of the International Association for the Study of the Liverd : Wileyg 33:6, s. 904-8q 33:6<904-8x 1478-3231 |
773 | 0 | t Liver Internationald : Wileyg 33:6, s. 904-8q 33:6<904-8x 1478-3223 |
856 | 4 8 | u https://gup.ub.gu.se/publication/176523 |
856 | 4 8 | u https://doi.org/10.1111/liv.12141 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:126874439 |
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