作者
Saskia WC Van Mil, Alexandra Milona, Peter H Dixon, Roman Mullenbach, Victoria L Geenes, Jenny Chambers, Vasylyna Shevchuk, Gudrun E Moore, Frank Lammert, Anna G Glantz, Lars–Åke Mattsson, John Whittaker, Malcolm G Parker, Roger White, Catherine Williamson
发表日期
2007/8/1
期刊
Gastroenterology
卷号
133
期号
2
页码范围
507-516
出版商
WB Saunders
简介
Background & Aims
Intrahepatic cholestasis of pregnancy (ICP) is characterized by liver impairment, pruritus, and elevated maternal serum bile acids. It can cause premature delivery and intrauterine death. Bile acid synthesis, metabolism, and transport are regulated by the bile acid sensor FXR, and we hypothesized that genetic variation in FXR confers susceptibility to ICP.
Methods
The coding regions and intron/exon boundaries of FXR were sequenced in 92 British ICP cases of mixed ethnicity. Subsequently, a case-control study of allele frequencies of these variants in 2 independent cohorts of Caucasian ICP patients and controls was performed. Variants were cloned into an FXR expression plasmid and tested in functional assays.
Results
We identified 4 novel heterozygous FXR variants (−1g>t, M1V, W80R, M173T) in ICP. W80R was not present in Caucasians and M1V was detected uniquely in 1 British case …
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SWC Van Mil, A Milona, PH Dixon, R Mullenbach… - Gastroenterology, 2007