Single nucleotide polymorphism of SREBF-1 gene associated with an increased risk of endometrial cancer in Chinese women.

Single nucleotide polymorphism of SREBF-1 gene associated with an increased risk of endometrial cancer in Chinese women.
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SREBF-1基因单核苷酸多态性与中国女性子宫内膜癌风险增加相关

DOI:
10.1371/journal.pone.0090491
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发表时间:
2014
期刊:
影响因子:
3.7
通讯作者:
Jiang J
Jiang J
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Qiu CP;Lv QT;Dongol S;Wang C;Jiang J

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目的研究甾醇调节元件结合蛋白-1(SREBP-1)在子宫内膜癌中的表达。肥胖和糖尿病已被确定为EC的已知危险因素,而SREBF-1基因多态性也被发现与肥胖和II型糖尿病相关。因此,我们推测SREBF-1基因的单核苷酸多态性(SNP)可能与EC的风险增加。方法采用高通量方法对30例食管癌组织和6例良性病变组织中SREBF-1基因进行序列分析。基于初步结果,我们选择了一个SNP(rs 2297508)作为遗传标记,对139例EC病例和129例良性对照进行了以医院为基础的病例对照研究。在使用RT-PCR进行SNP分析之前,在显微镜下检查样品以确定其组织病理学。结果通过序列分析发现10个与食管癌相关的SNPs,其中3个为新发现的SNPs。14%的食管癌患者存在rs 2297508位点的C等位基因SNP,而良性对照组仅有7%的患者存在C等位基因(p = 0.027,OR = 1.983)。    此外,C等位基因与癌分化(p<0.05)和肌层浸润深度(p<0.05)相关。结论SREBF-1基因rs 2297508位点可能是食管癌发生的遗传易感因素,筛选该基因标记有助于食管癌的早期诊断。
Aim Elevated levels of sterol regulatory element-binding protein-1 (SREBP-1) have been found in endometrial cancer (EC), suggesting that it is essential to the development of EC. Obesity and diabetes have been established as known risk factors of EC, while SREBF-1 gene polymorphisms have also been found to be associated with obesity and type II diabetes. Therefore, we hypothesize that single nucleotide polymorphism (SNP) in SREBF-1 gene may be associated with increased risk of EC. Method We analyzed the sequence of SREBF-1 in tissue samples from 30 EC cases and 6 benign controls using high throughput method. Based on the primary results, we selected one SNP (rs2297508) as a genetic marker to conduct a hospital-based case-control study with 139 EC cases and 129 benign controls. The samples were examined under the microscope to determine their histopathology prior to the SNP analysis using RT-PCR. Results Through sequence analysis, we found 10 SNPs of SREBF-1 associated with EC, including 3 new SNPs. Fourteen percent of EC showed the rs2297508 SNP with C allele, while only 7% had the C allele was present in benign controls (p = 0.027, OR = 1.983). Additionally, the C allele was associated with cancer differentiation (p<0.05) and the depth of myometrial invasion (p<0.05). Conclusion Our study indicates that SNP (rs2297508) of SREBF-1 may serve as a genetic predisposition factor for the development of EC and screening of such genetic marker may be helpful in its early detection.
DOI: 10.1016/j.cmet.2012.09.002
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