NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations

被引：23

作者：

Davit-Spraul, Anne ^{[1
]}

Gonzales, Emmanuel ^{[2
,3
,4
]}

Jacquemin, Emmanuel ^{[2
,3
,4
]}

机构：

[1] Univ Paris 11, Bicetre Hosp, Assistance Publ Hop Paris, Biochem Lab, Paris, France

[2] Univ Paris 11, Bicetre Hosp, Assistance Publ Hop Paris, Pediat Hepatol Unit, Paris, France

[3] Univ Paris 11, Bicetre Hosp, Assistance Publ Hop Paris, Natl Reference Ctr Biliary Atresia, Paris, France

[4] Univ Paris 11, Inserm U757, Orsay, France

来源：

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY | 2012年 / 36卷 / 06期

关键词：

FARNESOID-X-RECEPTOR; FUNCTIONAL VARIANTS; TRANSPORTERS; EXPRESSION; MDR3; GENE;

D O I：

10.1016/j.clinre.2012.08.008

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Farnesoid X receptor (FXR, NR1H4) controls bile acid homeostasis. NR1H4 variants may predispose to intrahepatic cholestasis of pregnancy (ICP). We report on NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC) and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no disease causing mutation in ATP8B1, ABCB11 and/or ABCB4 were found. No NR1H4 mutation was found in PFIC patients. In one woman with ICP/DIC, a NR1H4 heterozygous variant (c.-1G>T) was found. This suggests that a NR1H4 mutation is not or rarely involved in hepatocellular cholestasis of unknown cause. (c) 2012 Elsevier Masson SAS. All rights reserved.

引用

页码：569 / 573

页数：5

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