{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T15:51:39Z","timestamp":1790869899956,"version":"4.1.0"},"reference-count":49,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the\n                    <jats:italic>ATP8B1<\/jats:italic>\n                    gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (\u03b3-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC).\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Aims:<\/jats:bold>\n                    To establish whether mutations in\n                    <jats:italic>ATP8B1<\/jats:italic>\n                    are associated with ICP in British cases\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Patients:<\/jats:bold>\n                    Sixteen well phenotyped women with ICP without raised \u03b3-GT were selected for sequence analysis. Subsequently, 182 patients and 120 controls were examined for the presence of the variants detected.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    All coding exons were sequenced in 16 cases. Eight ICP cases, including two women carrying a mutation, were investigated using in vivo hepatic\n                    <jats:sup>31<\/jats:sup>\n                    P magnetic resonance spectroscopy (MRS)\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    Two heterozygous\n                    <jats:italic>ATP8B1<\/jats:italic>\n                    transitions (208G&gt;A and 2599C&gt;T) that resulted in amino acid substitutions were identified; 208G&gt;A was identified in three cases. MRS revealed an increased phosphodiester signal (Mann-Whitney U test, p\u200a=\u200a0.03) and a decreased phosphomonoester\/phosphodiester ratio (p\u200a=\u200a0.04) in ICP cases compared with controls.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    We were able to demonstrate\n                    <jats:italic>ATP8B1<\/jats:italic>\n                    mutations in ICP. MRS studies suggest that susceptibility to ICP is associated with a relative rise in biliary phospholipid. These data also suggest that MRS may be used for non-invasive assessment of the liver and biliary constituents in cholestasis.\n                  <\/jats:p>","DOI":"10.1136\/gut.2004.058115","type":"journal-article","created":{"date-parts":[[2005,5,11]],"date-time":"2005-05-11T19:03:27Z","timestamp":1115838207000},"page":"829-834","source":"Crossref","is-referenced-by-count":138,"title":["<i>ATP8B1<\/i>\n                    mutations in British cases with intrahepatic cholestasis of 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