File S1 - MTHFR Glu429Ala and ERCC5 His46His Polymorphisms Are Associated with Prognosis in Colorectal Cancer Patients: Analysis of Two Independent Cohorts from Newfoundland

Supporting information. Figure S1 The circled SNP is rs1801131 (MTHFR Glu429Ala), which lies in a 12kb LD block. The black squares indicate other highly correlated SNPs (r2>0.80). Figure S2 The circled SNP is rs1046678 (ERCC5 His46His), which lies in a 23kb LD block. The black squares indicate other highly correlated SNPs (r2>0.80). Table S1 n: number. Table S2 *Assay ID by Applied Biosystems (CA, USA). Underlined are the sequences on probes that are complementary to alleles they recognize. Assays for rs1799750 in MMP1 gene and rs1799889 in SERPINE1 gene were custom designed. Assays for rs1801131 in MTHFR gene and rs1047768 in ERCC5 gene were predesigned by Applied Biosystems. Primer and probe sequences for these assays are not available since they are proprietary of Applied Biosystems. Seq: sequence. Table S3 n/a: not applicable. Polymorphisms with χ2 value greater than 3.84 were considered to be deviating from HWE (p[49]. Nevertheless, it is worth noting that while the OGG1 Ser326Cys polymorphism that deviated from the HWE was included in the DFS multivariable model of the discovery cohort, its genotype data was not available for the validation cohort patients. Thus, the main conclusion on the disease-free survival analysis that the ERCC5 His46His polymorphism was associated with DFS in both the discovery and the validation patient cohorts is not affected by including this polymorphism in the DFS analysis of the discovery cohort. Table S4 CI: confidence interval, HR: hazard ratio, MSI: microsatellite instability, n: number of patients, vs: versus. Table S5 CI: confidence interval, HR: hazard ratio, MSI: microsatellite instability, n: number of patients, vs: versus. Table S6 CI: confidence interval, HR: hazard ratio, MSI: microsatellite instability, n: number of patients, vs: versus. Table S7 CI: confidence interval, HR: hazard ratio, MSI: microsatellite instability, n: number of patients, vs: versus. Methods S1 Genotyping reactions. Methods S2 Construction of linkage disequilibrium (LD) maps. (DOC)