2024
DOI: 10.14218/jcth.2023.00563
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Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review

Christopher J. Costa,
Minh Thu T. Nguyen,
Haleh Vaziri
et al.

Abstract: Gallstone (GS) disease is common and arises from a combination of genetic and environmental factors. Although genetic abnormalities specifically leading to cholesterol GSs are rare, there are clinically significant gene variants associated with cholesterol GSs. In contrast, most bilirubin GSs can be attributed to genetic defects. The pathogenesis of cholesterol and bilirubin GSs differs greatly. Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8, ABCG… Show more

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