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日本全基因组关联研究在10号染色体p14区域确定了一个重要的结直肠癌易感位点。

Japanese genome-wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14.

作者信息

Takahashi Yusuke, Sugimachi Keishi, Yamamoto Ken, Niida Atsushi, Shimamura Teppei, Sato Tetsuya, Watanabe Masahiko, Tanaka Junichi, Kudo Shinei, Sugihara Kenichi, Hase Kazuo, Kusunoki Masato, Yamada Kazutaka, Shimada Yasuhiro, Moriya Yoshihiro, Suzuki Yutaka, Miyano Satoru, Mori Masaki, Mimori Koshi

机构信息

Department of Surgery, Kyushu University Beppu Hospital, Beppu, Japan.

Department of Gastroenterological Surgery, Osaka University, Suita, Japan.

出版信息

Cancer Sci. 2017 Nov;108(11):2239-2247. doi: 10.1111/cas.13391. Epub 2017 Sep 26.

Abstract

Genome-wide association studies are a powerful tool for searching for disease susceptibility loci. Several studies identifying single nucleotide polymorphisms (SNP) connected intimately to the onset of colorectal cancer (CRC) have been published, but there are few reports of genome-wide association studies in Japan. To identify genetic variants that modify the risk of CRC oncogenesis, especially in the Japanese population, we performed a multi-stage genome-wide association study using a large number of samples: 1846 CRC cases and 2675 controls. We identified 4 SNP (rs7912831, rs4749812, rs7898455 and rs10905453) in chromosome region 10p14 associated with CRC; however, there are no coding or non-coding genes within this region of fairly extensive linkage disequilibrium (a 500-kb block) on 10p14. Our study revealed that the 10p14 locus is significantly correlated with susceptibility to CRC in the Japanese population, in accordance with the results of multiple studies in other races.

摘要

全基因组关联研究是寻找疾病易感基因座的有力工具。已有多项研究发表,确定了与结直肠癌(CRC)发病密切相关的单核苷酸多态性(SNP),但在日本进行全基因组关联研究的报道较少。为了确定影响CRC发生风险的基因变异,特别是在日本人群中,我们使用大量样本进行了多阶段全基因组关联研究:1846例CRC病例和2675例对照。我们在10号染色体区域10p14中鉴定出4个与CRC相关的SNP(rs7912831、rs4749812、rs7898455和rs10905453);然而,在10p14上这个具有相当广泛连锁不平衡(一个500 kb的区域)的区域内没有编码或非编码基因。我们的研究表明,10p14基因座与日本人群中CRC的易感性显著相关,这与其他种族的多项研究结果一致。

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