Dixit Manjusha, Choudhuri Gourdas, Keshri Laxman Ji, Mittal Balraj
Department of Genetics, SGPGIMS, Lucknow, India.
J Gastroenterol Hepatol. 2006 May;21(5):847-9. doi: 10.1111/j.1440-1746.2005.03931.x.
Gallstones are byproducts of cholesterol supersaturated bile. Various studies have indicated that there might be a genetic predisposition to the disease. Receptor-associated protein (RAP) is a molecular chaperone for low density lipoprotein receptor-related protein (LRP), which plays a key role in cholesterol metabolism. Intron 5 insertion/deletion polymorphism of RAP gene (LRPAP1) has been implicated in other diseases sharing etiology with gallstone disease (GSD).
To analyze the association of insertion/deletion polymorphism in GSD, 130 gallstone patients and 202 healthy subjects took part in the present study. For genotyping, polymerase chain reaction was followed by 2% agarose gel electrophoresis.
The results showed that frequencies of D and I allele were 65.77% and 34.23% in patients, 76.24% and 23.76% in controls, respectively. Frequency of I allele was significantly higher in the patient group than in the control group (P = 0.003).
In the present study I (insertion) allele was found to be associated with GSD.
胆结石是胆固醇过饱和胆汁的副产品。多项研究表明,该病可能存在遗传易感性。受体相关蛋白(RAP)是低密度脂蛋白受体相关蛋白(LRP)的分子伴侣,在胆固醇代谢中起关键作用。RAP基因(LRPAP1)的内含子5插入/缺失多态性与其他与胆结石病(GSD)病因相同的疾病有关。
为分析插入/缺失多态性与GSD的关联,130例胆结石患者和202例健康受试者参与了本研究。采用聚合酶链反应后进行2%琼脂糖凝胶电泳进行基因分型。
结果显示,患者组中D和I等位基因频率分别为65.77%和34.23%,对照组中分别为76.24%和23.76%。患者组中I等位基因频率显著高于对照组(P = 0.003)。
在本研究中,发现I(插入)等位基因与GSD有关。