Elucidating the role of 8q24 in colorectal cancer Free sex chat no resgister quebecois
To decipher the allelic structure underscoring the CRC associations at the 16 autosomal GWAS loci, we performed a meta-analysis of data from five GWASs.
We excluded the Xp22.2 locus from the analysis due to the low density of GWAS SNPs on the X chromosome.
Depth of sequencing coverage in the CG panel was high across each of the target regions, 48x–58x (Fig. Concordance between Illumina Omni Express genotype and sequencing data in 84 samples was 99%; 139 668 SNPs and 16 173 indels and substitutions were catalogued within the 16.2 Mb region.
Thus, through imputation we facilitated a 20-fold increase in the number of variants that could be evaluated for association.
In total, 46 829 of all variants mapping to the 16 regions had frequencies ≥1%, 4658 (10%) of which were not referenced in db SNP132.
In addition to using 1000 genomes data, we made use of deep sequencing (30×) data generated on 253 individuals, 199 of whom had been diagnosed with early-onset CRC (henceforth referred to as the CG panel).
Details of the 10 most highly associated variants identified in imputation with and without the CG panel are detailed in In 13 of the 16 regions, imputation provided refinement of the association signal identifying a region of interest narrower that the original LD block likely to harbour the functional variant.
However, for three loci, 6p21, 12q13 and 16q22.1, the LD structure is large and complex and prohibited a smaller region of association being delineated.
Search for elucidating the role of 8q24 in colorectal cancer:
Approximately 86% of these variants were shared by both reference panels.