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结直肠癌相关 SNP rs17042479 参与 NAF1 启动子活性的调节。

Colorectal cancer-associated SNP rs17042479 is involved in the regulation of NAF1 promoter activity.

机构信息

Department of Science and Environment, Roskilde University, Roskilde, Denmark.

Department of Clinical Immunology, Zealand University Hospital, Naestved, Denmark.

出版信息

PLoS One. 2022 Sep 6;17(9):e0274033. doi: 10.1371/journal.pone.0274033. eCollection 2022.

DOI:10.1371/journal.pone.0274033
PMID:36067202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9447907/
Abstract

A novel risk locus at 4q32.2, located between the Nuclear Assembly Factor 1 (NAF1) and Follistatin Like 5 (FSTL5) genes, was associated with increased risk of developing colorectal cancer (CRC), with SNP rs17042479 being the most associated. However, the link between CRC development and the risk locus at 4q32.2 is unknown. We investigated the promoter activity of NAF1 and FSTL5 and analyzed the risk locus at 4q32.2 as gene regulatory region. Our results showed that the activity of the FSTL5 promoter was low compared to the NAF1 promoter. Analyses of the NAF1 promoter in conjunction with the region containing the risk locus at 4q32.2 showed that the region functions as gene regulatory region with repressor activity on NAF1 promoter activity. The SNP rs17042479(G) increased the repressor effect of the region. CRC patients' biopsies were genotyped for SNP rs17042479(A/G), and NAF1 expression profiles were examined. We found an association between SNP rs17042479(G), cancer stage and tumor location. Additionally, patients with SNP rs17042479(G) showed lower NAF1 expression in comparison to patients with SNP rs17042479(A) in tumor tissue and the NAF1 expression in tumor tissue was lower compared to healthy tissue. The results in the study imply that reduced NAF1 expression in the tumor contribute to a more aggressive phenotype. Furthermore, this study suggests that the SNP rs17042479(G) change the expression of NAF1 and thereby increases the risk of developing CRC.

摘要

一个位于核组装因子 1（NAF1）和卵泡抑素样 5（FSTL5）基因之间的 4q32.2 上的新的风险位点与结直肠癌（CRC）风险增加相关，其中 SNP rs17042479 与风险增加相关性最强。然而，CRC 发展与 4q32.2 风险位点之间的联系尚不清楚。我们研究了 NAF1 和 FSTL5 的启动子活性，并分析了 4q32.2 上的风险位点作为基因调控区。我们的结果表明，与 NAF1 启动子相比，FSTL5 启动子的活性较低。对 NAF1 启动子与包含 4q32.2 风险位点的区域进行分析表明，该区域作为基因调控区，对 NAF1 启动子活性具有抑制作用。SNP rs17042479（G）增加了该区域的抑制作用。对 CRC 患者活检进行 SNP rs17042479（A/G）基因分型，并检测 NAF1 表达谱。我们发现 SNP rs17042479（G）与癌症分期和肿瘤位置之间存在关联。此外，与 SNP rs17042479（A）相比，携带 SNP rs17042479（G）的患者在肿瘤组织中 NAF1 表达较低，且肿瘤组织中 NAF1 表达低于健康组织。研究结果表明，肿瘤中 NAF1 表达减少导致更具侵袭性的表型。此外，本研究表明 SNP rs17042479（G）改变了 NAF1 的表达，从而增加了患 CRC 的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/277b1ccb43b7/pone.0274033.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/1efaadcbdc2a/pone.0274033.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/6fc735f133d8/pone.0274033.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/277b1ccb43b7/pone.0274033.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/1efaadcbdc2a/pone.0274033.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/6fc735f133d8/pone.0274033.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e64b/9447907/277b1ccb43b7/pone.0274033.g003.jpg

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