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2001 Abstract: 2399 The Role of Genetics in Gallstone Pathogenesis

2001 Digestive Disease Week

# 2399 The Role of Genetics in Gallstone Pathogenesis
Attila Nakeeb, Matthew I. Goldblatt, Deborah A. Swartz-Basile, Gabriele E. Sonnenberg, Ahmed H. Kissebah, Henry A. Pitt, Milwaukee, WI

INTRODUCTION - Approximately 30 million Americans have gallstones. Obesity, gender, age and parity are all known risk factors for the development of gallstone disease. Some analyses have suggested that diabetes, dyslipidemia and a family history of gallstone disease may also be significant risk factors.

METHODS - To better define the role of genetics in gallstone pathogenesis, a gallbladder disease specific questionnaire was administered to a group of 904 healthy adults between the ages of 18 and 90. The questionnaire ascertained a history of prior cholecystectomy, family history of gallstone disease in first degree relatives, medical history, demographic and anthropometric data. Statistical analysis was performed using the SPSS statistical package. Chi Squared and Student's t-test were performed as appropriate to determine possible risk factors. A p value of <0.05 was considered significant. Variables found to be significant in the univariate analysis were placed into a logistic regression model to identify risk factors of symptomatic gallstone disease.

RESULTS - The prevalence of cholecystectomy in the study population was 24%. Variables found to be significantly related to a history of cholecystectomy included age, body mass index (BMI), gender, history of gallstone disease in a first degree relative, diabetes, hypercholesterolemia, heart disease, hypertension, history of tobacco and alcohol use. However, in a multivariate analysis the following four factors were found to be significant (See Table).

CONCLUSIONS - These data suggest that in addition to gender, obesity and age, genetic factors play a significant role in the pathogenesis of gallstone formation. Therefore, we conclude that gallstone disease is most likely to occur in patients who are fat, forty, female, fertile and have a positive family history.

Gender (Female) Obesity (BMI>30) Age (>50 yrs) Family History of Gallstones

Relative Risk 8.8 3.7 2.5 2.2

p value 0.003 <0.001 <0.001 0.001

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