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

Japanese genome-wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14.
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DOI:
10.1111/cas.13391
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发表时间:
2017-11
期刊:
影响因子:
5.7
通讯作者:
Mimori K
Mimori K
中科院分区:
医学2区
文献类型:
--
作者:
Takahashi Y;Sugimachi K;Yamamoto K;Niida A;Shimamura T;Sato T;Watanabe M;Tanaka J;Kudo S;Sugihara K;Hase K;Kusunoki M;Yamada K;Shimada Y;Moriya Y;Suzuki Y;Miyano S;Mori M;Mimori K

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全基因组关联研究是寻找疾病易感基因座的有力工具。已经发表了几项鉴定与结直肠癌(CRC)发病密切相关的单核苷酸多态性(SNP)的研究,但在日本很少有全基因组关联研究的报道。为了确定改变CRC肿瘤发生风险的遗传变异,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。我们在染色体区域10 p14中发现了4个与CRC相关的SNP(rs7912831,rs 4749812,rs7898455和rs 10905453);然而,在10 p14上相当广泛的连锁不平衡(500 kb区块)区域内没有编码或非编码基因。我们的研究表明,10 p14位点与日本人群中CRC的易感性显著相关,与其他种族的多项研究结果一致。
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.
染色体 10p14 的遗传变异与结直肠癌的风险相关:病例对照研究和荟萃分析的结果
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