Figure 1. Overview of the LD block and the new finding marker SNP (rs2580520) in our study for breast cancer susceptibility.
The upper panel shows a view of the genomic region of rs2580520 (in a predicted H3K4Me1 enhancer region) (120,813,325-120,813,825) from the UCSC browser Build 36 assembly (hg18). The following one shows the analyzed linkage disequilibrium (LD) block, its flanking region, related genes and predicted enhancers, marking with the seven SNPs. The lower panel shows the LD plot (120,791,177 - 121,068,797) of European descent and Chinese descent [the block was defined by the confidence intervals (Gabriel et al., 2002)]. The lower left thumbnail shows the r2 vaule between seven SNPs in Chinese descent.Several limitations were inherent in this study. First, the power was relatively low due to the limited sample size and low MAF of the rs11249433 SNP. Second, the biological function of the significant SNP rs2580520 is unclear in the development of breast cancer. Therefore, additional large scale population-based studies will be needed to validate the findings in our study and functional characterization to explore the underline mechanisms will be also required.