4.6 Article

Identification and characterization of colorectal-cancer-associated SNPs on the SMAD7 locus

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Article Genetics & Heredity

Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer

Xiaoqing Cheng et al.

Summary: In this study, the functional annotation of colorectal cancer (CRC)-related GWAS signals revealed potential causal variants in the 18q21.1 region, particularly the SNP rs7229639 in intron 3 of SMAD7, which may modulate enhancer activity and expression of the LIPG gene. Clinical data supported the oncogenic function of LIPG in CRC. Pitavastatin was observed to have anti-CRC activity and modest inhibition of LIPG mRNA levels. These findings suggest that these functional variants at 18q21.1 could serve as promising therapeutic targets for CRC.

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