Rudzińska Karolina, Bogacz Anna, Kotrych Daniel, Wolski Hubert, Majchrzycki Marian, Seremak-Mrozikiewicz Agnieszka, Kosiński Bogusław, Czerny Bogusław
Department of Internal Medicine, 109 Military Hospital, Szczecin, Poland.
Laboratory of Experimental Pharmacogenetics, Department of Clinical Pharmacy and Biopharmacy, University of Medical Sciences, Poznan, Poland ; Department of Pharmacology and Phytochemistry, Institute of Natural Fibres and Medicinal Plants, Poznan, Poland.
Prz Menopauzalny. 2015 Mar;14(1):35-40. doi: 10.5114/pm.2015.49169. Epub 2015 Mar 25.
The decrease in estrogen levels in the postmenopausal period changes the lipid profile by the expression of hepatic genes related to metabolism of cholesterol and bile acid synthesis that could be important in the pathogenesis of cholelithiasis. The aim of the study was to determine the APOB gene 7673C>T and 12669G>A polymorphisms in the pathogenesis of gallstones and analysis of the composition of gallstones in pre- and postmenopausal women.
The study group consisted of 94 women qualified to the laparoscopic cholecystectomy while the control group consisted of 81 women in whom gallstones and other changes in the bile ducts were excluded. Gallstones composition analysis was performed using commercially available assays. The prevalence of the APOB gene polymorphisms was determined using the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).
When assessing the composition of gallstones in pre- and postmenopausal women, we observed differences in the studied parameters. Analysis of genetic variants of APOB gene 7673C>T and 12669G>A polymorphisms showed no significant statistical differences between studied groups and controls.
Analysis of 7673C>T and 12669G>A polymorphisms showed no relationship between specific genetic variants and the risk of gallstones in pre- and postmenopausal women, pointing to the fact that the investigated polymorphisms are not relevant as prognostic factors in gallstone disease in the Caucasian population. Because of the possible contribution of a variety of factors in gallstones pathogenesis the studies are required to take account of additional environmental factors, what may indicate different occurrence between investigated polymorphisms, gallstone disease development and gallstones composition in Caucasians.
绝经后期雌激素水平降低会通过与胆固醇代谢和胆汁酸合成相关的肝脏基因表达改变血脂谱,这在胆结石的发病机制中可能具有重要意义。本研究的目的是确定载脂蛋白B(APOB)基因7673C>T和12669G>A多态性在绝经前和绝经后女性胆结石发病机制中的作用,并分析胆结石的成分。
研究组由94名符合腹腔镜胆囊切除术条件的女性组成,对照组由81名排除胆结石和其他胆管病变的女性组成。使用市售检测方法进行胆结石成分分析。采用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法确定APOB基因多态性的发生率。
在评估绝经前和绝经后女性胆结石的成分时,我们观察到所研究参数存在差异。对APOB基因7673C>T和12669G>A多态性的基因变异分析显示,研究组与对照组之间无显著统计学差异。
对7673C>T和12669G>A多态性的分析表明,特定基因变异与绝经前和绝经后女性胆结石风险之间无关联,这表明在所研究的白种人群中,所调查的多态性作为胆结石疾病的预后因素并不相关。由于多种因素可能在胆结石发病机制中起作用,因此需要进一步研究考虑其他环境因素,这可能表明所研究的多态性、胆结石疾病发展以及白种人胆结石成分之间存在不同的发生率。