ABSTRACT
<p><b>OBJECTIVE</b>To study the characteristics of inheritance and epidemiology of gallstone disease in one pedigree.</p><p><b>METHODS</b>A gallbladder disease-specific questionnaire was administered to all family members to ascertain histories of cholecystectomy and other medical conditions as well as anthropometrical data. Laboratory examination and ultrasonography were performed to determine the existence of gallstone.</p><p><b>RESULTS</b>One hundred and thirteen members of four generations in the index family were enrolled in the study. The prevalence of gallstone in females (34.48%) was higher than in males (23.64%) but with no significant difference. The prevalence in the second and third generations (52%) was higher than in others (20%) (P < 0.05). The heritability and standard error showed as 86.38% +/- 46.46% in I generations. Body mass index, histories of hypertension, hyperlipidemia and blood glucose were positively related to gallstone disease (P = 0.012, < 0.01, 0.017, 0.043, respectively) in this family. Gallstone disease was not significantly related to history of diabetes, daily alcohol or diet habit. Plasma cholesterol and triglyceride levels were not correlated with gallstone disease.</p><p><b>CONCLUSION</b>Gallstone disease presented aggregation in the family and was in accordance with the characteristics of autosomal dominant inheritance. Being female, obesity, hypertension and history of hyperlipidemia might serve as risk factors to this family.</p>
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , China , Epidemiology , Family Health , Gallstones , Epidemiology , Genetics , Genetic Predisposition to Disease , Genetics , Hyperlipidemias , Hypertension , Obesity , Pedigree , Prevalence , Risk Factors , Sex Factors , Surveys and QuestionnairesABSTRACT
Objective To investigate the mRNA expression of liver receptor homolog 1 (LRH-1) gene in patients with cholesterol gallstone disease so that to elucidate the biomolecular pathogenesis of gallstone for- mation.Methods Twenty-seven patients with cholesterol gallstone (CGS) and 14 controls were included in this study.Biliary composition was assayed and mRNA expression of hepatic LRH 1 gene was determined by real time polymorphism chain reaction.Results In CGS patients,expression of LRH-1 was significantly higher than that in controls (14.18?9.37 vs 7.86?6.19,P＜0.05),and cholesterol of bile was oversaturated (1.17?0.27).Conclusion The formation of CGS may be related to increased expression of hepatic LRH-1 gene.