遗传倾向在许多ICP患者的发病中通过MDR3突变起到重要作用,该突变表现为家族性,并与多种肝脏疾病相关。[6]Trauner M, Boyer JL. Bile salt transporters: molecular characterization, function and regulation. Physiol Rev. 2003 Apr;83(2):633-71.http://physrev.physiology.org/cgi/content/full/83/2/633http://www.ncbi.nlm.nih.gov/pubmed/12663868?tool=bestpractice.com 大约 50% 具有家庭病史的患者具有相同的单倍体基因型。[1]Lammert F, Marschall HU, Glantz A, et al. Intrahepatic cholestasis of pregnancy: molecular pathogenesis, diagnosis and management. J Hepatol. 200;33:1012-1021.http://www.ncbi.nlm.nih.gov/pubmed/11131439?tool=bestpractice.com[6]Trauner M, Boyer JL. Bile salt transporters: molecular characterization, function and regulation. Physiol Rev. 2003 Apr;83(2):633-71.http://physrev.physiology.org/cgi/content/full/83/2/633http://www.ncbi.nlm.nih.gov/pubmed/12663868?tool=bestpractice.com[7]Rosmorduc O, Hermelin B, Boelle PY, et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology. 2003 Aug;125(2):452-9.http://www.ncbi.nlm.nih.gov/pubmed/12891548?tool=bestpractice.com[8]Milkiewicz P, Gallagher R, Chambers J, et al. Obstetric cholestasis with elevated gamma glutamyl transpeptidase: incidence, presentation and treatment. J Gastroenterol Hepatol. 2003 Nov;18(11):1283-6.http://www.ncbi.nlm.nih.gov/pubmed/14535985?tool=bestpractice.com[9]Eloranta ML, Hakli T, Hiltunen M, et al. Association of single nucleotide polymorphisms of the bile salt sport pump gene with intrahepatic cholestasis of pregnancy. Scand J Gastroenterol. 2003 Jun;38(6):648-52.http://www.ncbi.nlm.nih.gov/pubmed/12825874?tool=bestpractice.com[10]Savander M, Ropponen A, Avela K, et al. Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy. Gut. 2003 Jul;52(7):1025-9.http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=12801961http://www.ncbi.nlm.nih.gov/pubmed/12801961?tool=bestpractice.com