OBJECTIVETo study the characteristics of inheritance and epidemiology of gallstone disease in one pedigree.

METHODSA 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.

RESULTSOne 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.

CONCLUSIONGallstone 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.