5q22染色体上DNA拷贝数畸变与胃癌之间的关联。
The association between DNA copy number aberrations at chromosome 5q22 and gastric cancer.
作者信息
Tsai Pei-Chien, Huang Szu-Wei, Tsai Hsiang-Lin, Ma Cheng-Jen, Hou Ming-Feng, Yang I-Ping, Wang Yung-Song, Juo Suh-Hang Hank, Wang Jaw-Yuan
机构信息
Hepatobiliary Division, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Department of Medical Genetics, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
出版信息
PLoS One. 2014 Sep 11;9(9):e106624. doi: 10.1371/journal.pone.0106624. eCollection 2014.
BACKGROUND
Gastric cancer is common cancer. Discovering novel genetic biomarkers might help to identify high-risk individuals. Copy number variation (CNV) has recently been shown to influence risk for several cancers. The aim of the present study was sought to test the association between copy number at a variant region and GC.
METHODS
A total of 110 gastric cancer patients and 325 healthy volunteers were enrolled in this study. We searched for a CNV and found a CNV (Variation 7468) containing part of the APC gene, the SRP19 gene and the REEP5 gene. We chose four probes targeting at APC-intron8, APC-exon9, SRP19 and REEP5 to interrogate this CNV. Specific Taqman probes labeled by different reporter fluorophores were used in a real-time PCR platform to obtain copy number. Both the original non-integer data and transformed integer data on copy number were used for analyses.
RESULTS
Gastric caner patients had a lower non-integer copy number than controls for the APC-exon9 probe (Adjusted p = 0.026) and SRP19 probe (Adjusted p = 0.002). The analysis of integer copy number yielded a similar pattern although less significant (Adjusted p = 0.07 for APC-exon9 probe and Adjusted p = 0.02 for SRP19 probe).
CONCLUSIONS
Losses of a CNV at 5q22, especially in the DNA region surrounding APC-exon 9, may be associated with a higher risk of gastric cancer.
背景
胃癌是一种常见癌症。发现新的基因生物标志物可能有助于识别高危个体。最近研究表明，拷贝数变异（CNV）会影响多种癌症的发病风险。本研究旨在检测一个变异区域的拷贝数与胃癌之间的关联。
方法
本研究共纳入110例胃癌患者和325名健康志愿者。我们搜索了一个CNV，并发现一个包含部分APC基因、SRP19基因和REEP5基因的CNV（变异7468）。我们选择了针对APC内含子8、APC外显子9、SRP19和REEP5的四个探针来检测这个CNV。在实时PCR平台上使用由不同报告荧光团标记的特异性Taqman探针来获取拷贝数。拷贝数的原始非整数数据和转换后的整数数据均用于分析。
结果
对于APC外显子9探针（校正p = 0.026）和SRP19探针（校正p = 0.002），胃癌患者的非整数拷贝数低于对照组。整数拷贝数分析得出了类似的模式，尽管显著性较低（APC外显子9探针校正p = 0.07，SRP19探针校正p = 0.02）。
结论
5q22处CNV的缺失，尤其是在APC外显子9周围的DNA区域，可能与胃癌风险较高有关。
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