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APC基因中p.1125Val>Ala和rs11954856对Wnt信号通路的不同影响。

Different effection of p.1125Val>Ala and rs11954856 in APC on Wnt signaling pathway.

作者信息

Li Fei-Feng, Zhao Zhi-Xun, Yan Peng, Wang Song, Liu Zheng, Zhang Qiong, Zhang Xiao-Ning, Sun Chang-Hao, Wang Xi-Shan, Wang Gui-Yu, Liu Shu-Lin

机构信息

Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, China.

Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China.

出版信息

Oncotarget. 2017 Aug 5;8(41):70854-70864. doi: 10.18632/oncotarget.20106. eCollection 2017 Sep 19.

DOI:10.18632/oncotarget.20106
PMID:29050326
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5642601/
Abstract

Colorectal cancer (CRC) is among the most common and fatal forms of solid tumors worldwide and more than two thirds of CRC and adenomas patients have gene mutations. APC is a key regulator in the Wnt/β-catenin signaling pathway but its roles in CRC remains to be elucidated. In this study, we compared genes between CRC patients and controls to determine possible associations of nucleotide changes in the gene with the pathways involved in CRC pathogenesis. All participants received physical and enteroscopic examinations. The gene was sequenced for 300 Chinese Han CRC patients and 411 normal controls, and the expression levels of genes in the signaling pathway were analyzed using Western Blotting. Statistical analyses were conducted using SPSS (version 19.0) software. We found that rs11954856 in the gene was associated with colorectal cancer and could increase the expression levels of , , , and genes in the pathway in the CRC patients, demonstrating the involvement of APC in the pathological processes leading to CRC.

摘要

结直肠癌(CRC)是全球最常见且致命的实体瘤形式之一,超过三分之二的CRC和腺瘤患者存在基因突变。APC是Wnt/β-连环蛋白信号通路中的关键调节因子,但其在CRC中的作用仍有待阐明。在本研究中,我们比较了CRC患者和对照组之间的基因,以确定该基因核苷酸变化与CRC发病机制所涉及途径之间的可能关联。所有参与者均接受了体格检查和肠镜检查。对300例中国汉族CRC患者和411例正常对照进行了该基因测序,并使用蛋白质印迹法分析了信号通路中基因的表达水平。使用SPSS(版本19.0)软件进行统计分析。我们发现该基因中的rs11954856与结直肠癌相关,并且可以增加CRC患者该通路中、、、和基因的表达水平,表明APC参与了导致CRC的病理过程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/da041d257827/oncotarget-08-70854-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/a64a88499e21/oncotarget-08-70854-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/de39d45a55c4/oncotarget-08-70854-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/38da00854485/oncotarget-08-70854-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/da041d257827/oncotarget-08-70854-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/a64a88499e21/oncotarget-08-70854-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/de39d45a55c4/oncotarget-08-70854-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/38da00854485/oncotarget-08-70854-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbf1/5642601/da041d257827/oncotarget-08-70854-g004.jpg

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本文引用的文献

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PLoS One. 2015 Nov 10;10(11):e0142666. doi: 10.1371/journal.pone.0142666. eCollection 2015.
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Identification of a novel mutation associated with familial adenomatous polyposis and colorectal cancer.一种与家族性腺瘤性息肉病和结直肠癌相关的新突变的鉴定。
Int J Mol Med. 2015 Oct;36(4):1049-56. doi: 10.3892/ijmm.2015.2303. Epub 2015 Aug 5.
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Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases.SMAD3基因变异在室间隔缺损及其他先天性心脏病中可能作用的特征分析
PLoS One. 2015 Jun 25;10(6):e0131542. doi: 10.1371/journal.pone.0131542. eCollection 2015.
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Identification of diagnostic markers in colorectal cancer via integrative epigenomics and genomics data.通过整合表观基因组学和基因组学数据鉴定结直肠癌的诊断标志物
Oncol Rep. 2015 Jul;34(1):22-32. doi: 10.3892/or.2015.3993. Epub 2015 May 19.
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Biomarkers and signaling pathways of colorectal cancer stem cells.结直肠癌干细胞的生物标志物和信号通路
Tumour Biol. 2015 Mar;36(3):1339-53. doi: 10.1007/s13277-015-3198-4. Epub 2015 Feb 14.
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