Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy

References

• Chacko KR, Wolkoff AW. Intrahepatic cholestasis of pregnancy: new diagnostic insights. Ann Hepatol. 2017;16(2):176–178.
   PubMed Web of Science ®Google Scholar
• Chappell LC, Bell JL, Smith A, et al. Ursodeoxycholic acid versus placebo in women with intrahepatic cholestasis of pregnancy (PITCHES): a randomised controlled trial. Lancet. 2019;394(10201):849–860.
   PubMed Web of Science ®Google Scholar
• Stulic M, Culafic D, Boricic I, et al. Intrahepatic cholestasis of pregnancy: a case study of the rare onset in the first trimester. Medicina. 2019;55(8):454.
   PubMedGoogle Scholar
• Jiang PY, Zhu XJ, Jiang RA, et al. MicroRNAs derived from urinary exosomes act as novel biomarkers in the diagnosis of intrahepatic cholestasis of pregnancy. Am J Transl Res. 2019;11(9):6249–6261.
   PubMed Web of Science ®Google Scholar
• Abu-Hayyeh S, Ovadia C, Lieu T, et al. Prognostic and mechanistic potential of progesterone sulfates in intrahepatic cholestasis of pregnancy and pruritus gravidarum. Hepatology. 2016;63(4):1287–1298.
   PubMed Web of Science ®Google Scholar
• Hu J, Liu L, Gong Y, et al. Linc02527 promoted autophagy in intrahepatic cholestasis of pregnancy. Cell Death Dis. 2018;9(10):979.
   PubMedGoogle Scholar
• Di Mascio D, Quist-Nelson J, Riegel M, et al. Perinatal death by bile acid levels in intrahepatic cholestasis of pregnancy: a systematic review. J Matern Fetal Neonatal Med. 2021;34(21):3614–3622.
   PubMed Web of Science ®Google Scholar
• Ovadia C, Seed PT, Sklavounos A, et al. Association of adverse perinatal outcomes of intrahepatic cholestasis of pregnancy with biochemical markers: results of aggregate and individual patient data meta-analyses. Lancet. 2019;393(10174):899–909.
   PubMed Web of Science ®Google Scholar
• Wood AM, Livingston EG, Hughes BL, et al. Intrahepatic cholestasis of pregnancy: a review of diagnosis and management. Obstet Gynecol Surv. 2018;73(2):103–109.
   PubMed Web of Science ®Google Scholar
• Fleminger J, Seed PT, Smith A, et al. Ursodeoxycholic acid in intrahepatic cholestasis of pregnancy: a secondary analysis of the PITCHES trial. BJOG. 2021;128(6):1066–1075.
   PubMed Web of Science ®Google Scholar
• Russell DW. The enzymes, regulation, and genetics of bile acid synthesis. Annu Rev Biochem. 2003;72:137–174.
   PubMed Web of Science ®Google Scholar
• Griffiths WJ, Crick PJ, Meljon A, et al. Additional pathways of sterol metabolism: evidence from analysis of Cyp27a1–/– mouse brain and plasma. Biochim Biophys Acta Mol Cell Biol Lipids. 2019;1864(2):191–211.
   PubMed Web of Science ®Google Scholar
• Dubrac S, Lear SR, Ananthanarayanan M, et al. Role of CYP27A in cholesterol and bile acid metabolism. J Lipid Res. 2005;46(1):76–85.
   PubMed Web of Science ®Google Scholar
• Rosen H, Reshef A, Maeda N, et al. Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene. J Biol Chem. 1998;273(24):14805–14812.
   PubMed Web of Science ®Google Scholar
• Oguro H, McDonald JG, Zhao Z, et al. 27-Hydroxycholesterol induces hematopoietic stem cell mobilization and extramedullary hematopoiesis during pregnancy. J Clin Invest. 2017;127(9):3392–3401.
   PubMed Web of Science ®Google Scholar
• Rizzolo D, Buckley K, Kong B, et al. Bile acid homeostasis in a cholesterol 7alpha-Hydroxylase and sterol 27-Hydroxylase double knockout mouse model. Hepatology. 2019;70(1):389–402.
   PubMed Web of Science ®Google Scholar
• Nie S, Chen G, Cao X, et al. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014;9(1):179.
   PubMed Web of Science ®Google Scholar
• Salen G, Steiner RD. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis. 2017;40(6):771–781.
   PubMed Web of Science ®Google Scholar
• Liu X, Lai H, Zeng X, et al. Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy. BMC Pregnancy Childbirth. 2020;20(1):544.
   PubMed Web of Science ®Google Scholar
• Liu X, Lai H, Xin S, et al. Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study. BMC Pregnancy Childbirth. 2021;21(1):110.
   PubMed Web of Science ®Google Scholar
• Kumar S, Stecher G, Tamura K. MEGA7: Molecular evolutionary genetics analysis version 7.0 for bigger datasets. Mol Biol Evol. 2016;33(7):1870–1874.
   PubMed Web of Science ®Google Scholar
• Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–249.
   PubMed Web of Science ®Google Scholar
• Schwarz JM, Cooper DN, Schuelke M, et al. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–362.
   PubMed Web of Science ®Google Scholar
• Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–1081.
   PubMed Web of Science ®Google Scholar
• Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis. 1997;18(15):2714–2723.
   PubMed Web of Science ®Google Scholar
• Jelski W, Piechota J, Orywal K, et al. The alterations in alcohol dehydrogenase activity in the sera of women with intrahepatic cholestasis of pregnancy. Anticancer Res. 2020;40(4):1997–2001.
   PubMed Web of Science ®Google Scholar
• Guszczynska-Losy M, Wirstlein PK, Wender-Ozegowska E, et al. Evaluation of predictive value of biochemical markers for adverse obstetrics outcomes in pregnancies complicated by cholestasis. Ginekol Pol. 2020;91(5):269–276.
   PubMed Web of Science ®Google Scholar
• Lorbek G, Lewinska M, Rozman D. Cytochrome P450s in the synthesis of cholesterol and bile acids-from mouse models to human diseases. Febs J. 2012;279(9):1516–1533.
   PubMed Web of Science ®Google Scholar
• von Bahr S, Bjorkhem I, Van’t Hooft F, et al. Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. J Pediatr Gastroenterol Nutr. 2005;40(4):481–486.
   PubMed Web of Science ®Google Scholar
• Lee CW, Lee JJ, Lee YF, et al. Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review. J Clin Lipidol. 2019;13(6):954–959.e1.
   PubMed Web of Science ®Google Scholar
• Tang Y, Liu Y, Li D, et al. A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis. Int J Neurosci. 2020;130(10):972–975.
   PubMed Web of Science ®Google Scholar
• Larson A, Weisfeld-Adams JD, Benke TA, et al. Cerebrotendinous xanthomatosis presenting with infantile spasms and intellectual disability. JIMD Rep. 2017;35:1–5.
   PubMedGoogle Scholar