Novel approach to functional SNPs discovery from genome-wide data reveals promising variants for colon cancer risk
| Autor: | Arina O. Degtyareva, Elena E. Korbolina, Ilja I. Brusentsov, Elena Yu Leberfarb, Tatyana I. Merkulova, L. O. Bryzgalov |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Genotype Genome-wide association study Single-nucleotide polymorphism Computational biology Biology Polymorphism Single Nucleotide Genome 03 medical and health sciences 0302 clinical medicine Gene Frequency Risk Factors Genetics Humans Genetic Predisposition to Disease Gene Allele frequency Alleles Genetics (clinical) Genetic association Genome Human HCT116 Cells Minor allele frequency 030104 developmental biology 030220 oncology & carcinogenesis Colonic Neoplasms Female Human genome Genome-Wide Association Study |
| Zdroj: | Human Mutation. 39:851-859 |
| ISSN: | 1059-7794 |
| Popis: | In the majority of colorectal cancer (CRC) cases, the genetic basis of predisposition remains unexplained. The goal of the study was to assess the regulatory SNPs (rSNPs) in the human genome and to reveal СRC drivers based on the available chromatin immunoprecipitation sequencing (ChIP-Seq, ChIA-PET) and transcriptional profiling (RNA-Seq) data. We combined positional (locations within genome regulatory elements) and functional (associated with allele-specific binding and expression) criteria followed by an analysis using genome-wide association studies (GWAS) and minor allele frequency (MAF) datasets. DeSeq2 analysis through 70 CRC patients reinforced the regulatory potential. rSNPs (1,476) that were associated with significant (P |
| Databáze: | OpenAIRE |
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