The role of genetic mutations in intrahepatic cholestasis of pregnancy


Aydin G. A. , Ozgen G., Gorukmez O.

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, vol.59, no.5, pp.706-710, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.1016/j.tjog.2020.07.014
  • Title of Journal : TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
  • Page Numbers: pp.706-710

Abstract

Objective: Intrahepatic cholestasis of pregnancy (ICP) is a liver disorder of pregnancy characterized by pruritus, elevated liver enzymes and fasting serum bile acids. Genetic predisposition has been suggested to play a role in its etiology and mutations in the ATP8B1(OMIM *602397) (FIC1), ABCB11(OMIM *603201) (BSEP), and ABCB4(OMIM *171060) (MDR3) genes have been implicated. In the present study, we aimed to investigate the possible role of ATP8B1, ABCB11, and ABCB4 gene mutations in the patients with ICP.