Abstract
Apolipoprotein E (apoE) isoforms are genetic determinants of interindividual variations in lipid metabolism. To assess whether apoE is a genetic risk factor for cholesterol gallstone disease (GD), we analyzed apoE variants in populations from Chile and Germany, two countries with very high prevalence rates of this disease. ApoE genotypes were determined in Chilean gallstone patients (n = 117) and control subjects (n = 122) as well as in German gallstone patients (n = 184) and matched controls (n = 184). In addition, we studied apoE variants in subgroups of Chilean patients with strong differences in their susceptibility to acquire gallstones: 50 elderly subjects without gallstones in spite of well-known risk factors for this disease (gallstone-resistant) and 32 young individuals with gallstones but without risk factors (gallstone-susceptible). Furthermore, correlation analysis of apoE genotypes with cholesterol crystal formation times, biliary cholesterol saturation index (CSI), and gallstone cholesterol contents was performed in 81 cholecystectomized patients. In this study analyzing the largest sample set available, apoE4 genotype was not associated with an increased frequency of GD in either population. Moreover, in the Chilean population after adjusting for risk factors such as gender, age, body mass index, serum lipids, and glucose, the odds ratio for the association of the apoE4 allele and GD was significantly (P < 0.05) <1. Also, genotypes were not correlated with cholesterol crystal formation time, CSI, or gallstone cholesterol content. In contrast to previous smaller studies, apoE polymorphisms were not associated with susceptibility to cholesterol GD in high-risk populations.
Highlights
Apolipoprotein E isoforms are genetic determinants of interindividual variations in lipid metabolism
These findings suggest that abnormalities in cholesterol and lipoprotein metabolism play an important role in the pathogenesis of cholesterol cholelithiasis
As we observed in the whole Chilean survey [8], the selected Chilean gallstone disease (GD) subjects were slightly but significantly older, with higher body mass index (BMI), total cholesterol, and fasting glycemia compared with subjects without GD
Summary
Chilean patients included in this study represent a nested casecontrol study based on an ongoing population-based study of the prevalence and risk factors of cholelithiasis in Chile [8]. We randomly sampled 2,558 adult individuals aged 18 years and older, and 1,678 subjects (66%) answered a questionnaire and attended a general health examination including abdominal ultrasonography. 250 unrelated individuals [median age of 44 years (range, 18–82 years); 66 males, 168 females] with (n 5 125) and without (n 5 125) GD were randomly selected from the adult population described above. All patients admitted to the gastroenterology ward of the Department of Medicine III were included consecutively to exclude potential bias, and gallstone status and clinical chemical parameters were obtained on the day after admission to minimize the effects of the underlying diseases on liver metabolism and gallbladder stasis.
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