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LAPTM4B 多态性与中国胆囊癌易感性的相关性。

Correlation of LAPTM4B polymorphisms with gallbladder carcinoma susceptibility in Chinese patients.

机构信息

Department of Cell Biology, School of Basic Medical Sciences, Peking University, and Department of Interventional Radiology and Vascular Surgery, Peking University Third Hospital, Beijing, China.

出版信息

Med Oncol. 2012 Dec;29(4):2809-13. doi: 10.1007/s12032-012-0173-4.

Abstract

Gallbladder carcinoma (GBC) is a malignancy with an extremely poor prognosis. In order to improve the survival rate, identification of new susceptibility risk factors is of importance. Here, we report findings on the novel cancer-related gene lysosomal protein transmembrane 4 beta (LAPTM4B) that has two alleles designated LAPTM4B1 and LAPTM4B2. Allele *1 differs from allele *2 in that it contains one copy of a 19-bp sequence, whereas this sequence is duplicated in exon 1 of allele *2. This study aimed to investigate the relationship of LAPTM4B allelic variation and GBC susceptibility. LAPTM4B genotype was analyzed in 155 healthy individuals and 91 GBC patients by PCR, and the genotypic distribution of LAPTM4B was analyzed with the chi-squared test. The frequency of allele *2 was 37.9 and 24.8% in the GBC and the control groups, respectively, representing a significant difference between these two groups (P<0.001). LAPTM4B allele *2 may be a risk factor associated with genetic susceptibility to GBC.

摘要

胆囊癌(GBC)是一种预后极差的恶性肿瘤。为了提高生存率,识别新的易感性风险因素非常重要。在这里,我们报告了一种新型癌症相关基因溶酶体蛋白跨膜 4β(LAPTM4B)的发现,该基因有两个等位基因,分别命名为 LAPTM4B1 和 LAPTM4B2。等位基因1 与等位基因2 不同,因为它含有一个 19 个碱基对的序列,而该序列在等位基因2 的外显子 1 中重复。本研究旨在探讨 LAPTM4B 等位基因变异与 GBC 易感性的关系。通过 PCR 分析了 155 名健康个体和 91 名 GBC 患者的 LAPTM4B 基因型,并采用卡方检验分析了 LAPTM4B 的基因型分布。GBC 组和对照组中 LAPTM4B 等位基因2 的频率分别为 37.9%和 24.8%,两组之间存在显著差异(P<0.001)。LAPTM4B 等位基因*2 可能是与 GBC 遗传易感性相关的风险因素。

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