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首页> 外文期刊>BMC Genomics >A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

机译：一项西班牙人群的大肠癌全基因组关联研究确定了与1p33和8p12大肠癌风险相关的两个变异

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Background Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC risk variants. Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin. Results Thus, we followed the same approach in a Spanish cohort of 881 cases and 667 controls. Sixty-four variants at 24 loci were found to be associated with CRC at p-values replication=0.042; Ppooled=5.523x10-03; OR (CI95%)=0.866(0.782-0.959)) and rs11987193 at 8p12 (Preplication=0.039; Ppooled=6.985x10-5; OR (CI95%)=0.786(0.705-0.878)) were replicated in the second Phase, although they did not reach genome-wide statistical significance. Conclusions We have performed the first CRC GWAS in a Southern European population and by these means we were able to identify two new susceptibility variants at 1p33 and 8p12 loci. These two SNPs are located near the SLC5A9 and DUSP4 loci, respectively, which could be good functional candidates for the association signals. We therefore believe that these two markers constitute good candidates for CRC susceptibility loci and should be further evaluated in other larger datasets. Moreover, we highlight that were these two SNPs true susceptibility variants, they would constitute a decrease in the CRC missing heritability fraction.
机译：背景结直肠癌（CRC）是一种复杂的病因学疾病，许多预期的遗传风险归因于几种常见的低风险变体。全基因组关联研究（GWAS）已鉴定出20种CRC风险变异。然而，这些只能解释部分遗漏的遗传力。而且，仅在北欧血统的人群中检查了这些信号。结果因此，我们在881例病例和667例对照的西班牙人群中采用了相同的方法。在p值复制时发现24个位点的64个变异与CRC相关。 = 0.042; P pooled = 5.523x10 -03 ; OR（CI95％）= 0.866（0.782-0.959））和rs11987193 at 8p12（P replication = 0.039; P pooled = 6.985x10 -5 ; OR（CI95％）= 0.786（0.705-0.878））在第二阶段被复制，尽管它们没有达到全基因组范围的统计学意义。结论我们在南欧人群中进行了首例CRC GWAS，通过这些方法，我们能够在1p33和8p12位点鉴定出两个新的易感性变异体。这两个SNP分别位于SLC5A9和DUSP4位点附近，这可能是关联信号的良好功能候选对象。因此，我们认为这两个标记物是CRC易感基因座的良好候选者，应在其他较大的数据集中进一步评估。此外，我们强调这是这两个SNP的真实易感性变异，它们将构成CRC缺失遗传率分数的降低。

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