Genetic study of FGF19 receptor variants in gallstone disease

Krawczyk, Marcin; Acalovschi, Monica; Lammert, Frank

doi:10.1002/hep.25863

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…Since impaired gallbladder motility is a risk factor for gallstone formation, these observations implicate potential alterations of FGF19 signaling in the development of gallstone disease. This is supported by genotyping studies that revealed enrichment of a KLB (encoding b-Klotho) risk allele in gallstone carriers [69]. The potential local mode of action of gallbladder-derived FGF19 proposed by Zweers et al [67], would moreover be in line with the recent finding that neither serum levels of FGF19 nor its intestinal expression are altered in gallstone patients devoid of ileal inflammation [70].…”

Section: Bile Acid-associated Disordersmentioning

confidence: 58%

Mechanisms of enterohepatic fibroblast growth factor 15/19 signaling in health and disease

Jahn

Rau

Hermanns

et al. 2015

Cytokine & Growth Factor Reviews

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Section: Bile Acid-associated Disordersmentioning

confidence: 58%

Mechanisms of enterohepatic fibroblast growth factor 15/19 signaling in health and disease

Jahn

Rau

Hermanns

et al. 2015

Cytokine & Growth Factor Reviews

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“…The oestrogen receptor alpha and G protein-coupled receptor 30 correspond to the lithogenic gene cluster 18 in inbred mice [ 26 ]. Genetic variants can impair the FGF19 signalling [ 38 ]. Genetic variants in NPC1L1 , regulating cholesterol absorption in the canalicular membrane and in the enterocyte in humans might also be involved in in cholesterol hypersecretion, although studies with the specific NPC1L1 inhibitor ezetimibe argue against this possibility [ 39 – 44 ] and need to be further investigated.…”

Section: Pathogenesis Of Gallstonesmentioning

confidence: 99%

Metabolic dysfunction-associated gallstone disease: expecting more from critical care manifestations

et al. 2023

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About 20% of adults worldwide have gallstones which are solid conglomerates in the biliary tree made of cholesterol monohydrate crystals, mucin, calcium bilirubinate, and protein aggregates. About 20% of gallstone patients will definitively develop gallstone disease, a condition which consists of gallstone-related symptoms and/or complications requiring medical therapy, endoscopic procedures, and/or cholecystectomy. Gallstones represent one of the most prevalent digestive disorders in Western countries and patients with gallstone disease are one of the largest categories admitted to European hospitals. About 80% of gallstones in Western countries are made of cholesterol due to disturbed cholesterol homeostasis which involves the liver, the gallbladder and the intestine on a genetic background. The incidence of cholesterol gallstones is dramatically increasing in parallel with the global epidemic of insulin resistance, type 2 diabetes, expansion of visceral adiposity, obesity, and metabolic syndrome. In this context, gallstones can be largely considered a metabolic dysfunction-associated gallstone disease, a condition prone to specific and systemic preventive measures. In this review we discuss the key pathogenic and clinical aspects of gallstones, as the main clinical consequences of metabolic dysfunction-associated disease.

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Gallstones

Lammert

Gurusamy

et al. 2016

Nat Rev Dis Primers

577

525

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Gallstones grow inside the gallbladder or biliary tract. These stones can be asymptomatic or symptomatic; only gallstones with symptoms or complications are defined as gallstone disease. Based on their composition, gallstones are classified into cholesterol gallstones, which represent the predominant entity, and bilirubin ('pigment') stones. Black pigment stones can be caused by chronic haemolysis; brown pigment stones typically develop in obstructed and infected bile ducts. For treatment, localization of the gallstones in the biliary tract is more relevant than composition. Overall, up to 20% of adults develop gallstones and >20% of those develop symptoms or complications. Risk factors for gallstones are female sex, age, pregnancy, physical inactivity, obesity and overnutrition. Factors involved in metabolic syndrome increase the risk of developing gallstones and form the basis of primary prevention by lifestyle changes. Common mutations in the hepatic cholesterol transporter ABCG8 confer most of the genetic risk of developing gallstones, which accounts for ∼25% of the total risk. Diagnosis is mainly based on clinical symptoms, abdominal ultrasonography and liver biochemistry tests. Symptoms often precede the onset of the three common and potentially life-threatening complications of gallstones (acute cholecystitis, acute cholangitis and biliary pancreatitis). Although our knowledge on the genetics and pathophysiology of gallstones has expanded recently, current treatment algorithms remain predominantly invasive and are based on surgery. Hence, our future efforts should focus on novel preventive strategies to overcome the onset of gallstones in at-risk patients in particular, but also in the population in general.

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Genetic study of FGF19 receptor variants in gallstone disease

Cited by 3 publications

References 4 publications

Mechanisms of enterohepatic fibroblast growth factor 15/19 signaling in health and disease

Mechanisms of enterohepatic fibroblast growth factor 15/19 signaling in health and disease

Metabolic dysfunction-associated gallstone disease: expecting more from critical care manifestations

Gallstones

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