Genetic variants at 8q24 are associated with risk of esophageal squamous cell carcinoma in a Chinese population.

Genetic variants at 8q24 are associated with risk of esophageal squamous cell carcinoma in a Chinese population.
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8q24 的遗传变异与中国人群食管鳞状细胞癌的风险相关

DOI:
10.1111/cas.12399
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发表时间:
2014-06
期刊:
影响因子:
5.7
通讯作者:
Shen H
Shen H
中科院分区:
医学2区
文献类型:
--
作者:
Dai N;Zheng M;Wang C;Ji Y;Du J;Zhu C;He Y;Zhu M;Zhu X;Sun M;Dai J;Ma H;Chen J;Hu Z;Gu H;Jin G;Shen H

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食管癌和胃癌具有共同的危险因素和遗传易感性。最近的全基因组关联研究发现了多个与胃癌风险相关的基因位点,这些基因位点也可能参与食管癌的发生。在此,我们通过病例对照研究(2139例病例和2273例对照)评估了1 q22、3q13.3、5p13.1和8 q24胃癌风险相关变异与食管鳞状细胞癌(ESCC)风险的关系。我们发现,rs 2294008的T等位基因(PSCA基因8 q24的内含子变异体,以前与胃癌风险增加相关)与ESCC风险降低呈负相关(比值比= 0.90; 95%置信区间,0.81-0.99; P = 0.034)。有趣的是,rs 2294008与ESCC的相关性与在高加索人群中食管腺癌和ESCC中观察到的一致。然而,在1 q22(rs 4072037),3q13.31(rs 9841504)和5p13.1(rs 13361707)的其他三个变异中没有观察到显著的关联。我们的研究结果表明,位于8 q24的PSCA易感位点可能是一把双刃剑,在胃和食管的癌变过程中起调节作用。
Esophageal cancer and gastric cancer have shared risk factors and inherited susceptibility. Recent genome-wide association studies have identified multiple genetic loci associated with gastric cancer risk, which may also involve in the development of esophageal cancer. Herein, we evaluated the relationship of gastric cancer risk-related variants at 1q22, 3q13.3, 5p13.1, and 8q24 with the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese population with a case–control study (2139 cases and 2273 controls). We found that the T allele of rs2294008, an intronic variant of the PSCA gene at 8q24 that was previously associated with an increased risk of gastric cancer, was inversely associated with a decreased risk of ESCC (odds ratio = 0.90; 95% confidence interval, 0.81–0.99; P = 0.034). Of interest, the association of rs2294008 with ESCC was consistent with that observed in esophageal adenocarcinoma and ESCC in Caucasian populations. However, no significant associations were observed for the other three variants at 1q22 (rs4072037), 3q13.31 (rs9841504), and 5p13.1 (rs13361707). Our findings suggest that the susceptibility locus of PSCA at 8q24 may be a double-edged sword, as modulator between the carcinogenesis processes of stomach and esophagus.
来自全基因组关联研究的 PSCA 多态性与胃癌风险相关:荟萃分析
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