Common risk variants for colorectal cancer: an evaluation of associations with age at cancer onset.

作者: Nan Song , Aesun Shin , Ji Won Park , Jeongseon Kim , Jae Hwan Oh

DOI: 10.1038/SREP40644

关键词: SNPGenome-wide association studySingle-nucleotide polymorphismInternal medicineGenetic associationCancerMedicineOncologyColorectal cancerConfidence intervalOdds ratio

摘要: Common genetic risk variants for colorectal cancer (CRC) have been identified at approximately 40 loci by genome-wide association studies (GWAS). We investigated the of these age onset CRC using case-only and case-control analysis. A total 1,962 cases 2,668 controls from two independent conducted Korea’s National Cancer Center were included in this study. genotyped 33 GWAS-identified single-nucleotide polymorphisms (SNPs) associated with risk. The allele SNP rs704017, located 10q22.3 ZMIZ1-AS1 gene, was consistently less frequent among patients aged <50 years than ≥50 analysis (odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.66–0.92, P = 2.7 × 10−3, an additive model), although did not surpass threshold multiple testing. direction associations between rs704017 differed group combined (<50 years: OR = 0.77, CI = 0.60–0.98, P = 0.03 OR = 1.13, CI = 0.98–1.29, P = 0.09, a dominant model); p-values heterogeneity (Pheterogeneity = 7.5 × 10−3) interaction statistically significant (Pinteraction = 7.8 × 10−3, model). Our results suggest that susceptibility has hereditary effect on CRC.

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