Abstract：
:Colorectal cancer (CRC) is a common complex disease caused by the combination of genetic variants and environmental factors. Genome-wide association studies (GWAS) have been performed and reported some novel CRC susceptibility variants. However, the potential genetic mechanisms for newly identified CRC susceptibility variants are still unclear. Here, we selected 85 CRC susceptibility variants with suggestive association P < 1.00E-05 from the National Human Genome Research Institute GWAS catalog. To investigate the underlying genetic pathways where these newly identified CRC susceptibility genes are significantly enriched, we conducted a functional annotation. Using two kinds of SNP to gene mapping methods including the nearest upstream and downstream gene method and the ProxyGeneLD, we got 128 unique CRC susceptibility genes. We then conducted a pathway analysis in GO database using the corresponding 128 genes. We identified 44 GO categories, 17 of which are regulatory pathways. We believe that our results may provide further insight into the underlying genetic mechanisms for these newly identified CRC susceptibility variants.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Lu X,Cao M,Han S,Yang Y,Zhou Jdoi
10.1038/srep25347subject
Has Abstractpub_date
2016-05-05 00:00:00pages
25347issn
2045-2322pii
srep25347journal_volume
6pub_type
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journal_title：Scientific reports
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pub_type： 杂志文章
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journal_title：Scientific reports
pub_type： 杂志文章
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journal_title：Scientific reports
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journal_title：Scientific reports
pub_type： 已发布勘误
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