胆囊结石病人小肠胆固醇吸收相关基因表达的初步研究

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凶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±0.60 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±0.25vs 0.20±0.16;MTTP:12.35±8.10 vs 8.22±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.

Preliminary study on expression genes involved in intestinal cholesterol absorption in patients with gallstone

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 proxi-mal jejunum and serum samples were collected in ten cholesterol gallstone patients (GS) and seven gallstone-free controls (GSF). The mRNA 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 NPC1L1, ABCG5, ABCG8, ACAT2, and MTTP between GS and GSF (GS vs. GSF: NPC1LI: 1.155±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±0.25vs. 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 gallstonc pa-tients and gallstone-free controls. The genetic variations in intestinal cholesterol absorption might not be related to the pathogenesis of gallstone disease in Chinese patients.