Fundación Pública Galega de Medicina Xenómica-Grupo de Medicina Xenómica-Centro de Investigación Biomédica en Red de Enfermedades Raras-IDIS, Santiago de Compostela 15706, Spain.
Carcinogenesis. 2013 Feb;34(2):314-8. doi: 10.1093/carcin/bgs357. Epub 2012 Nov 16.
Genome-wide association studies have successfully identified 20 colorectal cancer susceptibility loci. Amongst these, four of the signals are defined by tagging single nucleotide polymorphisms (SNPs) on regions 14q22.2 (rs4444235 and rs1957636) and 20p12.3 (rs961253 and rs4813802). These markers are located close to two of the genes involved in bone morphogenetic protein (BMP) signaling (BMP4 and BMP2, respectively). By investigating these four SNPs in an initial cohort of Spanish origin, we found substantial evidence that minor allele frequencies (MAFs) may be different in northern and southern European populations. Therefore, we genotyped three additional southern European cohorts comprising a total of 2028 cases and 4273 controls. The meta-analysis results show that only one of the association signals (rs961253) is effectively replicated in the southern European populations, despite adequate power to detect all four. The other three SNPs (rs4444235, rs1957636 and rs4813802) presented discordant results in MAFs and linkage disequilibrium patterns between northern and southern European cohorts. We hypothesize that this lack of replication could be the result of differential tagging of the functional variant in both sets of populations. Were this true, it would have complex consequences in both our ability to understand the nature of the real causative variants, as well as for further study designs.
全基因组关联研究已成功确定了 20 个结直肠癌易感性位点。在这些信号中,有 4 个信号由标记在 14q22.2 区域(rs4444235 和 rs1957636)和 20p12.3(rs961253 和 rs4813802)上的单核苷酸多态性(SNPs)定义。这些标记物位于参与骨形态发生蛋白(BMP)信号通路的两个基因附近(BMP4 和 BMP2)。在最初的西班牙人群队列中对这四个 SNP 进行研究后,我们发现有充分的证据表明,北欧和南欧人群的次要等位基因频率(MAF)可能存在差异。因此,我们对另外三个包括 2028 例病例和 4273 例对照的南欧人群进行了基因分型。荟萃分析结果表明,尽管有足够的检测所有四个关联信号的能力,但在南欧人群中只有一个关联信号(rs961253)得到了有效复制。另外三个 SNP(rs4444235、rs1957636 和 rs4813802)在 MAF 和北欧和南欧人群之间的连锁不平衡模式方面呈现出不一致的结果。我们假设这种复制缺失可能是由于两个人群中功能性变体的不同标记所致。如果这是真的,这将对我们理解真正致病变体的性质以及进一步的研究设计能力产生复杂的影响。
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