Suppr超能文献

低密度脂蛋白受体相关蛋白相关蛋白(LRPAP1)基因插入/缺失多态性与胆结石病的关联

Association of low density lipoprotein receptor related protein-associated protein (LRPAP1) gene insertion/deletion polymorphism with gallstone disease.

作者信息

Dixit Manjusha, Choudhuri Gourdas, Keshri Laxman Ji, Mittal Balraj

机构信息

Department of Genetics, SGPGIMS, Lucknow, India.

出版信息

J Gastroenterol Hepatol. 2006 May;21(5):847-9. doi: 10.1111/j.1440-1746.2005.03931.x.

Abstract

BACKGROUND AND AIM

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).

METHODS

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.

RESULTS

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).

CONCLUSION

In the present study I (insertion) allele was found to be associated with GSD.

摘要

背景与目的

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。

方法

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

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)。

结论

在本研究中,发现I(插入)等位基因与GSD有关。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验