Hereditary liver disease: gallstones

H Wittenburg - Best Practice & Research Clinical Gastroenterology, 2010 - Elsevier
Gallstones are common in Western countries and due to pain and complications pose a
substantial burden on health care systems. In general, cholesterol gallstones are …

CYP7A1 (− 204 A> C; rs3808607 and− 469 T> C; rs3824260) promoter polymorphisms and risk of gallbladder cancer in North Indian population

A Srivastava, G Choudhuri, B Mittal - Metabolism, 2010 - Elsevier
Cholesterol 7-α hydroxylase (CYP7A1), which is a rate-limiting enzyme for cholesterol
catabolism and bile acid synthesis, may affect cholesterol homeostasis and result in …

Role of genetic variant A-204C of cholesterol 7α-hydroxylase (CYP7A1) in susceptibility to gallbladder cancer

A Srivastava, SN Pandey, G Choudhuri… - Molecular Genetics and …, 2008 - Elsevier
Gallbladder carcinoma (GBC) usually arises in the background of gallstone disease.
Cholesterol 7α-hydroxylase (CYP7A1) is a rate-limiting enzyme for cholesterol catabolism …

[PDF][PDF] Insights into modifiable risk factors of cholelithiasis: A Mendelian randomization study

L Chen, H Yang, H Li, C He, L Yang, G Lv - Hepatology, 2022 - Wiley Online Library
Abstract Background and Aims The risk factors of cholelithiasis have not been clearly
identified, especially for total cholesterol. Here, we try to identify these causal risk factors …

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24. 2

MM Garcia-Barceló, MY Yeung, XP Miao… - Human molecular …, 2010 - academic.oup.com
Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the
extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and …

The potential influence of genetic variants in genes along bile acid and bile metabolic pathway on blood cholesterol levels in the population

Y Lu, EJM Feskens, JMA Boer, M Müller - Atherosclerosis, 2010 - Elsevier
The liver is currently known to be the major organ to eliminate excess cholesterol from our
body. It accomplishes this function in two ways: conversion of cholesterol molecules into bile …

Lith genes and genetic analysis of cholesterol gallstone formation

HH Wang, P Portincasa, NH Afdhal… - Gastroenterology …, 2010 - gastro.theclinics.com
Cholesterol cholelithiasis is one of the most prevalent digestive diseases, resulting in a
considerable financial and social burden worldwide. In the United States, at least 20 million …

Genome-wide association analysis in primary sclerosing cholangitis

TH Karlsen, A Franke, E Melum, A Kaser, JR Hov… - Gastroenterology, 2010 - Elsevier
BACKGROUND & AIMS: We aimed to characterize the genetic susceptibility to primary
sclerosing cholangitis (PSC) by means of a genome-wide association analysis of single …

Prevalence and risk factors for gallstone disease: a population‐based cross‐sectional study

ST Song, J Shi, XH Wang, YB Guo… - Journal of digestive …, 2020 - Wiley Online Library
Objective To explore the prevalence of and risk factors for gallstone disease in Shanghai,
China. Methods A population‐based cross‐sectional study was conducted in Shanghai …

A Variant of the SLC10A2 Gene Encoding the Apical Sodium-Dependent Bile Acid Transporter Is a Risk Factor for Gallstone Disease

O Renner, S Harsch, E Schaeffeler, S Winter… - PLoS …, 2009 - journals.plos.org
Background Cholelithiasis is a multifactorial process and several mechanisms of gallstone
formation have been postulated. As one of these mechanisms, a decreased expression of …