ABCG8 D19H polymorphism: A basis for the genetic prediction of cholesterol gallstone disease

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Genetic predisposition of cholesterol gallstone disease.

Gallstone disease (GSD) is the result of the interaction between genetic and environmental factors and it is a major disease cause of surgery with high costs to health systems. Worldwide prevalence varies according to the ethnic population suggesting that high prevalence of GSD in certain ethnic groups is due to the presence of genetic factors implicated in different metabolic pathways. However...

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Role of the ABCG8 19H risk allele in cholesterol absorption and gallstone disease

BACKGROUND Gallstone disease is associated with p.D19H of ABCG8 as well as alterations of cholesterol and bile acid metabolism. However, molecular mechanisms have not been fully elucidated. It is important to understand the link between the sterol transporters ABCG5/8 and NPC1L1 and intestinal cholesterol absorption as well as de novo synthesis in gallstone patients stratified according to 19H ...

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Genetic factors in cholesterol gallstone disease

Most common diseases are strongly influenced by inheritance, but, to date, relatively few genes have been identified that are responsible for the familial clustering of these diseases. In the great majority of cases, no Mendelian inherited trait can be demonstrated. With the exception of cholesterol gallstones associated with low phospholipid level, induced by mutations in the gene of the multi...

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Cholesterol gallstone disease.

With a prevalence of 10-15% in adults in Europe and the USA, gallstones are the most common digestive disease needing admission to hospital in the West. The interplay between interprandial and postprandial physiological responses to endogenous and dietary lipids underscores the importance of coordinated hepatobiliary and gastrointestinal functions to prevent crystallisation and precipitation of...

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Association of Three Common Single Nucleotide Polymorphisms of ATP Binding Cassette G8 Gene with Gallstone Disease: A Meta-Analysis

BACKGROUND In this study, we evaluated the association between these polymorphisms and gallstone disease using meta-analysis and compared the hepatic ABCG5/G8 mRNA expression and biliary lipids composition in patients with different genotypes of T400K and Y54C. METHODS Data were analyzed using the Stata/SE 11.0 software and a random- effects model was applied irrespective of between-study het...

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ژورنال

عنوان ژورنال: Journal of Gastroenterology and Hepatology

سال: 2010

ISSN: 0815-9319

DOI: 10.1111/j.1440-1746.2010.06484.x