中文摘要：

目的该研究通过分析胆石病人小肠胆固醇吸收相关基因的表达情况探讨小肠胆固醇吸收的遗传因素在胆石病发生中的作用。方法研究包括10例胆囊结石病人和7例无胆石症的对照。实时定量PCR法测定近段空肠黏膜胆固醇吸收相关基因mRNA的表达量。结果胆石组小肠胆固醇吸收相关基因的mRNA表达量与对照组没有统计学差异（NPCIL1：1．15±0．60vs0．80±0．29；ABCG5：3．11±2．70vs1．92±1．38；ABCG8：3．65±2．08vs2．85±1．33；ACAT2：0．30±0．25vs0．20±0．16；MTTP：12．35±8．10vs8．22±5．74，P〉0．05）。结论胆石病人小肠胆固醇吸收相关基因表达差异不是胆石病发生的主要遗传因素。

英文摘要：

Objective To determine whether genetic variations in intestinal cholesterol absorp tion are related to the pathogenesis of gallstone formation in humans. Methods Mucosa of the proximal jejunum and serum samples were collected in ten cholesterol gallstone patients （GS） and seven gallstone free controls （（;SF）. The rnRNA expression levels of genes were analyzed by real-time PCR, Biliary lipids composition was measured in those subjects for whom gallbladder bile was available （GS, n=5; GSF. n = 3）. Results Control subjects were matched to gallstone patients for age （GS vs. GSF： 52.5±18.9 vs. 67.0±9.9, P〉0.05） and body mass index （GS vs. GSF： 21.19±2.04 vs. 19. 14±1.35. P〈0.05）. Cholesterol saturation index was increased by 47% in GS （0.99±0.31） compared with GSF （0.67± 0.22）. But this was not statistically significant due to few samples. There was no difference in mRNA expression levels of NPCIL1, ABCG5, ABCG8, ACAT2, and MTTP between GS and GSF （GSvs. GSF： NPC1L1： 1.15±0.60 vs. 0.80±0.29; ABCG5： 3. 11± 2.70 vs. 1. 92±1. 38, ABCG8： 3. 65±2. 08 vs. 2.85±1.33 ;ACAT2：0.30±0.25 vs. 0.20±0.16; MTTP： 12.35±8. 10 vs. 8.22±5.74, P〉0.05）. Conclusion There was no difference in mRNA expression levels of the known genes involved in intestinal cholesterol absorption between gallstone patients and gallstone free controls. The genetic variations in intestinal cholesterol absorption might not be related to the pathogenesis of gallstone disease in Chinese patients.